ZMP
SYNE1 (1 of 2)
Ensembl ID:
Description:
spectrin repeat containing, nuclear envelope 1 [Source:HGNC Symbol;Acc:17089]
Human Orthologue:
SYNE1
Human Description:
spectrin repeat containing, nuclear envelope 1 [Source:HGNC Symbol;Acc:17089]
Mouse Orthologue:
Syne1
Mouse Description:
synaptic nuclear envelope 1 Gene [Source:MGI Symbol;Acc:MGI:1927152]
Alleles
There are 36 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa14682 | Nonsense | Available for shipment | Available now |
sa16903 | Nonsense | Available for shipment | Available now |
sa9773 | Nonsense | Available for shipment | Available now |
sa12762 | Nonsense | Available for shipment | Available now |
sa18036 | Nonsense | Available for shipment | Available now |
sa10324 | Nonsense | Available for shipment | Available now |
sa32120 | Nonsense | Available for shipment | Available now |
sa11808 | Nonsense | Available for shipment | Available now |
sa11059 | Nonsense | Available for shipment | Available now |
sa13399 | Nonsense | Available for shipment | Available now |
sa11274 | Nonsense | Available for shipment | Available now |
sa11252 | Nonsense | Available for shipment | Available now |
sa32119 | Essential Splice Site | Available for shipment | Available now |
sa10495 | Nonsense | Available for shipment | Available now |
sa13678 | Nonsense | Available for shipment | Available now |
sa11189 | Nonsense | Available for shipment | Available now |
sa14747 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa14682
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > G
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000091828 | Nonsense | 335 | 8759 | 9 | 143 |
Genomic Location (Zv9):
Chromosome 17 (position 7942610)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 17 | 7945384 |
GRCz11 | 17 | 8102562 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AGAGATGTACTGYGGGCACAGGGATCTGAAGAGAGTCTCACTGACAAATA[T/G]CAGGTCAACTTTGGAATTAAACAGGCTGTTTTGTCACTTTYAGTGCAAGA
Long Flanking Sequence:
ACAAATGGCATCATTTCCTGAGAATGGTCTATTAGCGATGGATGCTCTCTGCTTGTTTCCCCTTTTTCTCTGGCTTTAATCTTGCTAACGTCTTGACTGTGTTGTGTTTGCATCTCTTGATATGCTTTTGCTCTCCTGGACAGTATGATCCACAAGATATTGAGCTAATGCTTGAGGTATGTGTATATTAGTACATAGGATCATAACAGTAGCTTGTTATTGTAAGAAAATGCAGAGTAGTGAAAGATCTTCAGTCTTCTTTATCAGTGGACTTTTTCCTGTTGTTCAATTTTTCACACTGCTGTGTTACCTGCTGTGTGTTCTTGTTATATGGATTCTTGCTGAAAACCTGCTAAGCGAGTGATAAATGGGTGCTTTTTTGTCTGATGCGCACAGCGAGAGGAACGCAAGGTGCTGAGAGAGGTGAAGATCTGGCTGGATCAGCTGGAGAGAGATGTACTGCGGGCACAGGGATCTGAAGAGAGTCTCACTGACAAATA[T/G]CAGGTCAACTTTGGAATTAAACAGGCTGTTTTGTCACTTTTAGTGCAAGAAACTGCAGGCAAATAGGGAGAAAAAAATAATACTGTAGTTTTCACAATACTTTGTTAATGTGCTGGATTATTGTTCATTAAGAATGGCAACGGTTTCTGTATTACAACTTTTTAAAAAAGATATTTAAATATGCTAATTATCCATAATTTGTGTTTTTAATATGCACCAATTTGCATACAGTTATAAAACATAAAAACATTGGATGAAATCAGGTTTAAAATTAATTTCTTTTTTGACATTGTAGTGACAAAAGTGTTTTACAAGGGGATATTTATCTCTTTCCTCCATTATTCAGTGAAAAATATATTATATATTATTAAAATATATATAATATATAATATTAAAGGAAAAGAGATAAATATTCCCTTGTGAAATAATAATAATAAAAACACAGAGGCAAAATTCCCTAAAAATGTTGTTGAGAAAATAGAATAGCAAAAACGCTGACA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa16903
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000091828 | Nonsense | 452 | 8759 | 12 | 143 |
Genomic Location (Zv9):
Chromosome 17 (position 7937432)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 17 | 7940206 |
GRCz11 | 17 | 8097384 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ACTTGCAGGAGGTGTTAAAGAACTTGGAGGSACACAGACAGACATTTCAG[C/T]AGATTCACAGAGACCGATCRGTAAACGGTGTACCRGTACCACCAGAGCAG
Long Flanking Sequence:
GGAGCGGAGACCGTAGATACCGGCTTCATTACTAAAAAGAAAGAGGACAAACACACAGAGACTGTTTTGTTCGGAAGAACAGAGAAGCCCACAGAGCGAAAGCGGCAATCTGGCCAGACACTTGACAGCTTGAAGGGTCTTCACAAACACCGAAGAGCATTAAAAACACATCTCTCCTTTTGATATCTGCCATGCTTTTGTGTGGTTTGTGCAGCTCTTAGACTGGCACATCCATCTGGACAAATCTTTGCCTGGTCCTCTGGGAGTGATCGGGGCCTGGCTGCATCGGGCAGAACTTTCCCTGAGAGAGGACGTCCCGATTCAACAGGCCCACGAAGAGACGGCCAACATCATCCACAGAAAACTGGAGCAGCACAAGGTAGTTTTTCTTTCTTGATGGACTTGATTTGATCCATGTGCTCCAGGAATTTAATATATTGTCTGTGCTTTACTTGCAGGAGGTGTTAAAGAACTTGGAGGGACACAGACAGACATTTCAG[C/T]AGATTCACAGAGACCGATCGGTAAACGGTGTACCGGTACCACCAGAGCAGCTTCAGGACATGGCAGAAAGGTCAATTTCATTTTACTGTTTATGGACAAAGGGCAGCATGGTGGCTCAGTGGTTAGCACTGTCTCCTCACAGCAAGAAGGTCGCTGGTTCCAGTCCCGGCTGAGCCAGTTGGCATTTCTAAGTGGAGTTTGCATGTTCCATGTGTTCATGTGGGTTTCCTCTGCATGCTCTGGTTTCCCCCGGTTAAAAACCCCTGATGTTAGTCTAGGGCAGTGGTTCTCAAAGTGGGGGTCGGGACCCCCAGAGGGGTCGCGGGACAATGAAGGGGGGTCCCCTGGTGATTTCCAAAAATCGATTTAATTTTTATTAAACCACAAGATTTACCATATTTTATTCATAACCTACTGAAGAGAAAAAATATATACTATATAGATACTATAATAGCTTATATTTCTATTGCAGGGGTGCTCAACCCTGTTCCTGGAGATCT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa9773
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000091828 | Nonsense | 1034 | 8759 | 23 | 143 |
Genomic Location (Zv9):
Chromosome 17 (position 7915070)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 17 | 7917844 |
GRCz11 | 17 | 8075022 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GACATCMCTGCAGGAGTGTCAGGCCGAACTGGCCCGCGAAAACCGCAGTT[T/A]GCCCAGYGTCGGCAGCGAGAGGTTAATTAAAGAGCACCGRGTGAGAGCCA
Long Flanking Sequence:
TACGTGCATACATGTACCTAGGTATATGTATGCAAATATACAGTTGAAGTCAGAATTATTAGGCATGACTAGGCAAGTCATTTGACAACAGTGGTTTGTTTTGTAGCTAATTGGAGAAAATACGGGTTCCATAAAATAATATTGACTTATTTTATTATGATAAATATATGCTGGAATAGTTGGTGGTTCATTCTGCTGTGGTGACCTATGAAAAATTAGAGACCCAGCCGAAGGAAAATGAATGAATGAATTAATGAAGTTGCTTTTTTTGTATACGATGGACGAAATCCAAGTACATTTATTATGGGTCGTGTAAAAAGGTTGGATAGCTATAGTGTATCAGGGCAAAAAATCTATATAAATAAATGCATGATTCCTGCAGGACGTCCAGACAGAATTTCCCTATCACCTGCTGCATCTGAAGGTGGATCTGGAGAAGAGTCGCCTGATGACATCACTGCAGGAGTGTCAGGCCGAACTGGCCCGCGAAAACCGCAGTT[T/A]GCCCAGTGTCGGCAGCGAGAGGTTAATTAAAGAGCACCGAGTGAGAGCCAGCATCTGTAAACCCACTCTATATGTCCTGTTTATGGAGGAAATACTAATGCCGAATCTCTTTATGCAGATGTTTTTTAAGGAAAAGGGTCCACAGGCTCTTTGTGAGAAGCGGTTACAGCATATGGATGAACTGTGCTTGAAGCTCCCGGAAAGCCAACAGGCTCAACAAACCCTGGTGATCGCCAGAACAGCATTTGCAGAGGTCAAAGAGGAGATTGACAGCACACACCAGAGACTAATGCAGCACCCGGACAAGTGGAAGGAGTTTAACACCAGGTGAACCACTGACTTTTTGAATATAAACTGGTTTGGGGCTGTTGTTATTAAGTGAGAACCAAATTGAGTCAACAATGATAAAGTAAGCTGAATTATTATATGCTATATTTAGCTTACTTATAAATACAGTTGAAGTCAGAATTATTAGCCCCTCCCTGTATATTTTTTCCCTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa12762
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000091828 | Nonsense | 1469 | 8759 | 31 | 143 |
Genomic Location (Zv9):
Chromosome 17 (position 7906145)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 17 | 7908919 |
GRCz11 | 17 | 8066097 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GAGAAAGAGAAATGGATGCCTTAAAAAGCTCCAGCATACCTTTGGACCAG[C/T]AGATCTGTACTGTACAGGTGCRAAAATGTATATTTTATTGCAAATTAAAA
Long Flanking Sequence:
GTTTTTTTATATGTGTTTAGTTTATTCTGCCTCACACAAAGAAAGCACGCTTCATTCTCCCTTCATTTGTTCCCGCAGGATCTCCTGAAACAGTGTGAAACGGAGGTCAGACAGGTGAACACACTTCTGAAAAGGGCCACAGAAATCCAACTGGGCCCCAAAAACCAGTCTCTTCTTCAGGATCAAGCACGAGCTTTGAGCGAACAAGTGGACAAAGTAGAGAAAGGACTCAAGCGAGAGTAATACCCTACTTTATCATATGGATTTTACATTAGGATTATTAAGATGAATGCATTAGAAGTCATACTCTAAGTGAATAAATAAAGCAGCTGTAAGAGAGTGTTTTGATGACTGTCTGGTTTTTCAGTGTGAAGACTTTGGAGGGAATGAAAAGTCAGTGGGATTTGTTCGGGAGTGAGTTTGAAGCGTTTTCCTCATGGATAATGGAGAGAGAAAGAGAAATGGATGCCTTAAAAAGCTCCAGCATACCTTTGGACCAG[C/T]AGATCTGTACTGTACAGGTGCAAAAATGTATATTTTATTGCAAATTAAAATTCTTTCTGATGTATATCTAATCATTTAGTTATTCATCATCATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTGCTTTTATATTATTGACTGCATGACTTTTTTTTTTCAAATATAGTTATATACAGTGTGACCCTGTGCCATAAACCATTTCAAAGTTTATTAAATACGCTAAATATTGAGAAAATCTCCATTAAAGTAAAAATAGTTCTTAGCAATGGATATTACCAATCAAAAAATAGGGTTTTGTCTTACAAAATAGAAATAATTATAAATCTATAAATAAATAATATAAAATAGATCTTTACATAATATTTTAATGCTTTAATAAGGCTGTAATGCTAATTTTAACTTTATCTCTTTGTATTTTTAGCTATTCCCACAAATATAATTAAGCAACATAATTTTAAAACAATAATTTTTATTATTTTTATA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa18036
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000091828 | Nonsense | 1813 | 8759 | 38 | 143 |
Genomic Location (Zv9):
Chromosome 17 (position 7892974)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 17 | 7895748 |
GRCz11 | 17 | 8052926 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AAAGAGAAGCTCTCCTRAAGCAAAGCATCGTCCGGCAGAATCTTCMGCAG[C/T]AAACTAAAACCCTGTGTGAYGTTTGTGAGCCAGCKGAAGTCCAGCATCTT
Long Flanking Sequence:
TTAACCTAATTACCTAATTAGTTAATTAGTAACCTAATTAGTTAAGCCTTTAAATTTGCCTTAAAATACTACTATCTTGCAAATAACTATTAAAATAGTACATACTGTCATCATGGCAAAACAAAAGAAATTAGTTATTAGAAATTAGTCCATGTTTGAAAAAAAATAAACATCATTTGTAGAAAGATTTGAAGGTTATGGAGGGCTAAGCATTTTGCCTTCAATTGTTTATAGGACATTACTGTGACACAAAAATGCATTTATCATAATCAAAAACAATATTTTTACTGACTTTTAAAACAGATTTATTGTTTAACATGTTAAGTTGAGAACCCTAAAGTCAACCCCCTGGGGTATGAATAATTTCAGGCTTGACTGTATATATAAACCAAGTAAAAGAGTGCTTATATTACAAGACAATAAAATTGTATCATTTTCCTCACCAGGAAAAAAGAGAAGCTCTCCTAAAGCAAAGCATCGTCCGGCAGAATCTTCAGCAG[C/T]AAACTAAAACCCTGTGTGACGTTTGTGAGCCAGCTGAAGTCCAGCATCTTCAGGGAAGGTGGGAGAGCTCCTTACAGCCGTACCTGGAGGCCCATCAGCTGGTTGAACTTCGAGGAGAGAGTTTGGAGAAACTGGAGGCCTTTCTACACACCCACAGTGTGGCAGCGGGCGTTCTCCAGGGCCTCAGACAGACCGTGGAGAGCGCTGGGAGTTGGGATAAAAGCCGGGTGGAAGAGCTGCAGAGAGAGCTGGAAGCCATCGTTCCGGATATCAGCCGCCTTGAAACGCTCGCCGTGAATTTGGACGGCAACCTGTGTAAATCTCACCTGCACTTAATGAGCGGGAAAGAGACACGGTCCTCGTGTCGTTCACTGGCTGACTCCTTGAGCGCTGAATTGGACGCCGTGAGAAACCTACTGGGCTCCAAACAAAGCGAAGCTGAGGCTCTCGGTGCTCTTTGGAGCTCCTTCAGACAGCGTAAAGAACAGCTGCTGAAAACT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa10324
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000091828 | Nonsense | 1956 | 8759 | 38 | 143 |
Genomic Location (Zv9):
Chromosome 17 (position 7892545)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 17 | 7895319 |
GRCz11 | 17 | 8052497 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ACTCCTTGAGCGCTGARTTGGAYGCCGTGAGRAACCTACTGGGCTCCAAA[C/T]AAAGCGAAGCTGAGGCTCTCGGTGCTCTTTGGAGCTCCTTYAGACAGCGT
Long Flanking Sequence:
ATCATTTTCCTCACCAGGAAAAAAGAGAAGCTCTCCTAAAGCAAAGCATCGTCCGGCAGAATCTTCAGCAGCAAACTAAAACCCTGTGTGACGTTTGTGAGCCAGCTGAAGTCCAGCATCTTCAGGGAAGGTGGGAGAGCTCCTTACAGCCGTACCTGGAGGCCCATCAGCTGGTTGAACTTCGAGGAGAGAGTTTGGAGAAACTGGAGGCCTTTCTACACACCCACAGTGTGGCAGCGGGCGTTCTCCAGGGCCTCAGACAGACCGTGGAGAGCGCTGGGAGTTGGGATAAAAGCCGGGTGGAAGAGCTGCAGAGAGAGCTGGAAGCCATCGTTCCGGATATCAGCCGCCTTGAAACGCTCGCCGTGAATTTGGACGGCAACCTGTGTAAATCTCACCTGCACTTAATGAGCGGGAAAGAGACACGGTCCTCGTGTCGTTCACTGGCTGACTCCTTGAGCGCTGAATTGGACGCCGTGAGAAACCTACTGGGCTCCAAA[C/T]AAAGCGAAGCTGAGGCTCTCGGTGCTCTTTGGAGCTCCTTCAGACAGCGTAAAGAACAGCTGCTGAAAACTGTGGAGGATATTGAGGAGAAGGCGGATCAACAGGGCCTGAAGGAGCCCAATGTGCTTACTCTACAGCAGAGGTATGGATTGTGATTATCAATGTGGTTGTTTATGTGAGGGATATTTAACAGATTGCCATGAGTTGTAAATGCATGACATTTAGGCAAAGAACTGCCCGATGCAAAGCAGAAGTGCATTTAAAGGTGTTGTATGTACATTTTTGACTCTTCTAAAACATAAAAAAGTTTGCAGATACAGCAGGGAAAATAAAAATTTAACACGTCACCATTTTTCTCAGAAAACATATTTCTTAAGGTGCCTTTGAAGTTTTTTTTCTGGGTGTTGGTAACAACCAAAGAAATCCATATATGCAAAGAAAAGGAATCGGATTAGTTTACAAATGAAGTTATGCATAATAAAAGGAAATAATGCTTGGAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa32120
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000091828 | Nonsense | 2045 | 8759 | 39 | 143 |
Genomic Location (Zv9):
Chromosome 17 (position 7888957)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 17 | 7891731 |
GRCz11 | 17 | 8048909 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTCAACAGCTCGCTCACAGAGATGCTGAGCTGGGCAGTGAAGTGCTAAGA[G/T]AGATTAACCTGCTTCAGACTACCTGGGAGGACACTAAGAAACTCATTACT
Long Flanking Sequence:
GATCAATAATCACGAAAGGACAAGGCAAGGAAACCGCTTAGTAATGTTACAGGGGAACAAGTCTCAGAAAAGCCTGCATGCGTGTGTGCTGTTTATATGGTCTATCTGATTATAAGCTTCAAGGTGTGTGTGTGTAATCAGGGGGAATCAGGAACTGGTGTTTCTGAGGTGCATGATGGGAGTTGTAGTTTATTTAAATGGCATATGTGTTGTTCTCCAGCGATCTGCATAGGCTAGATTGCTGATGATTGTGACACCATGTGGTATCTGGCATCATGAGATAAGGCACAAAATGGCGGAAAATGTCAACTCTGTTATTGTCAACTCTGTTATGCTTTACTCTATAGAGGAAACTCTTTTCTTGTGATGTGTTTAGGCTTCGGTTTTTCAATCAGCTGGAAGATGAGCTCCAGTCTCACCAGCATGAGGAGCAGTGGCTCAGGGATAAAGGTCAACAGCTCGCTCACAGAGATGCTGAGCTGGGCAGTGAAGTGCTAAGA[G/T]AGATTAACCTGCTTCAGACTACCTGGGAGGACACTAAGAAACTCATTACTGAGAGGTGAGCTGGCAGAAATCGGCTCTTATACTGTTTTTTGGGATGTTTGGCTTTTAATCGTGTGATATATGATATATGTAGTAAATGTTTTAAAAAATAAAGTGTTCTTGGATCAACTCATATTAGAGGTTTTGACAAATGGGGTTTGTCATTGGCAAATTCTTACATTTATGTGAATGGTTTCCCCAGTGTTAGACATTAGATTCCATCTTAAATTAAATTAAATTAAATTAAATTAAATTAAATTAAATTAAATTAAATTAAATTAAATTAAATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATCATTAATTCATTCATTTTCTTGTCGGCTTAGTCCCTTTATTAATCTGGGGTCGCCACAGCGGAATGAACCGCCAACTTATCCAGCACGTTTTTACGCAGCGGATGCCCTTCCAGCCGCAACCCATCT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa11808
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000091828 | Nonsense | 2511 | 8759 | 48 | 143 |
Genomic Location (Zv9):
Chromosome 17 (position 7880530)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 17 | 7883304 |
GRCz11 | 17 | 8040482 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ACAATCTAAATTAAAWCCTGTGTTKGTTTTGTAGGTTTGACGGCCGTCTG[C/T]AGAGACTGAGCCGCTGGCTGGAACGCATGGATGTGAARATGAGCACAGAG
Long Flanking Sequence:
CACACGCACCAAGCACACACTCAGGCAAAGCTCTCTCTCTCTCATTCGCAAAGCAATATCCGCGATATTGCTAGACAGCCCGCTCCCGTCCTAAATTAAACCCGTTACCGACCGCTCCCGCGATTTATTCGTAAATTTATTCCCGCGCCGCAGAAATCTGGTCGGGTCCCGCGGCTGTCCCACGGGCAGACCTTTAATGCAGACCTCTAGTCTGAGGACAGTGTAGCTGTTTTTTGTAGCCTGTGCCTTTAAATGCAAATGAACCTGTTGAAATGAAGCGTGTTTGGCTTCTTACATCAGATAAACGGCAGTCGGTGACCGACATTAATCCCAAAATCTAGGTGCTGTGTCTGTGGTGTCTCACCTTTAATATTAGTGCAACAAGTAATTTTGATGTGGAGGAAGCTGTGCACTTGACTCTCAGCTTGGCACGCAGTCGTTCGTCAACGAACAATCTAAATTAAATCCTGTGTTTGTTTTGTAGGTTTGACGGCCGTCTG[C/T]AGAGACTGAGCCGCTGGCTGGAACGCATGGATGTGAAGATGAGCACAGAGCTGCCAGAAGGAAGACATGGCGATCAGGAGAGAGTCACGCTGGAGCGGGTGGAAGAATTCCAGCATGAAGTGCTCAAAGAGAGGTACCGTGCTAATGTTATGTTATATCATTGCTTTGCCCTGTTGTGTGCACTGACTGACTCAATACACTTTAGGGATGCACCAATGTATCAGCTGTTGATATTTATCAGCTGATACTGGATTCATTTAAAGCTGTCGACAAATCAGCAATAATATGAAAAAGGCAGATGACTATGGCTACATATTGTAATTTGCAATAAACTCAAAATAATCAATCAGTCAATTAATCAATCAATCAATCAATAACTAAATAATTAAAGTCAATCAATAAATAAAATCTAAAATCAAACTTGCGCCTCTTAAAAATGTTGGACAGTTGAATGTTAAAAGGATTTAATAGATATTAAATAACATTAATTAAATGGAGGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa11059
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000091828 | Nonsense | 4337 | 8759 | 75 | 143 |
Genomic Location (Zv9):
Chromosome 17 (position 7826293)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 17 | 7829067 |
GRCz11 | 17 | 7986245 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ATCCAGGACTCCATTTTGACACTTGAAGACATGGGGCAAGTCGAGGCCYG[T/A]TTGAGGGAAGCTCGTGAATGGGCCGAGGAGCAGCAGCCGACTCTGTCTGA
Long Flanking Sequence:
TTGAGATTTGTAATTTTTTAGGTTTCTTGATGACAGAATACACATTGTAGATGTCACCTGATGATTGCTCGCAAAACAACTTTTAGTCTGACGTATTTGGTACCCAACACACATCAAGATTTAATCTGGATAAAATCGCATAATCTTACACAGTGACTATTGTGATCAACAATTAAAATTGTGCAGTCTGAATGGGCCTTAGAAACTTTTGAGACGTATTATTCTTTGATGTTTTATAGAACTGATGCTGAAAGTTCATCTGATCATCTGGAGGCTCTTCGGAAGCTCTCAGTTGTTCTTAAAGACAAGAAAAGCACACTTGAGGATCTCAAAGAGCAGAAGCAAAAAGTAATGTACCATCTAAACCTGGATGACAAAGAGCTGGTAAAGGAGCAGATAGGCCACTTTGAGCAGCGATGGGCTCATCTAGAGAGCCTCATTGAGAGGAAGATCCAGGACTCCATTTTGACACTTGAAGACATGGGGCAAGTCGAGGCCTG[T/A]TTGAGGGAAGCTCGTGAATGGGCCGAGGAGCAGCAGCCGACTCTGTCTGAAGCCATGAAGATGAGTCCCCCACCGGAGCTAGCGCAAAGTTTCCTCTTTGACCATCTCAGTATATGCAGCGAGCTGGAAGCCAAGCAGCTTCTGCTGGCCCAGGCGATGGGTGATGCAGACAGAGTTTTAGCACATCTGGGGCTAAATGAAAGACAAAGACTGCAGCAGCTTATCTCAGAGACGCAAGCAGAAGTAGAGTGCTTGAGCGTCAAAGTAGCTCAGCGTAGGAAACACCTTAGCAAGGCTTTCACCGAGAGAACACAGTTCTTGTTGGCTGTGAATCAAGCGATTACCTGGGTCCAGCAGAATGAGAAGAAAGCACAAGCAGAAGAGTACATAGCCCTTCTTCCTGACGACCTTTCAAAGCAGGTGAGAACATGCCGGAACATCCAGAGCAGTTTGAGAGCCTACCAGAGTGAGCTGACCTCCCTGTGGTCACAAGGCAGGGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa13399
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000091828 | Nonsense | 4608 | 8759 | 75 | 143 |
Genomic Location (Zv9):
Chromosome 17 (position 7825482)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 17 | 7828256 |
GRCz11 | 17 | 7985434 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AACAGATATTGGATCAAGCTATGGAATTTGAGAACCTCCTGCTAACTGTG[C/T]AAAGGACAGGTCAAGAGATACTTCCCACTCTCAATGAAGTAGACCACTGT
Long Flanking Sequence:
CACAGTTCTTGTTGGCTGTGAATCAAGCGATTACCTGGGTCCAGCAGAATGAGAAGAAAGCACAAGCAGAAGAGTACATAGCCCTTCTTCCTGACGACCTTTCAAAGCAGGTGAGAACATGCCGGAACATCCAGAGCAGTTTGAGAGCCTACCAGAGTGAGCTGACCTCCCTGTGGTCACAAGGCAGGGATCTGATGAAAGATGCTTCTGAAGAGGAGAAGACAGAGATGCTTCATAAGCTCCAAGAACTGCAAAGTATCTTTGAGGTTGCCCTGCAGAAGTGTAGCCAGAGGCTTCAGGACCTGGAAAAAGTGTTGGTGACTAGAAAATACTTTAAGGCAGATTTGGAGAAGATATGCCAATGGTTGAAACAAGCCGATATTGTGACCTTTCCAGAGATAAACCTCATGAACGGAGATGCAGAATTATGCTCACAGCTTACAAAATACCAACAGATATTGGATCAAGCTATGGAATTTGAGAACCTCCTGCTAACTGTG[C/T]AAAGGACAGGTCAAGAGATACTTCCCACTCTCAATGAAGTAGACCACTGTTACTTGGATGAGAAATTGATTGCTCTTCCTCAACAGTACAATAATATCTTGGGACTAGCTAAAGAGAAACAGGAGAAAATACAGCAAGCCATTCTTGCCCGACAAGAATATGCCTCCTTCATTGATGTTACCCACAAAGCACTTAAAGAACTTGAGGAACAGTTTCACAGCTTGGGGACGCAGCCAATCGGCCTTAAGACTGAGGAAGTTGTAAGCCTTCAAGCTGACTACAAAGCCCTTCTGGAGGAGCTGACCAATCTTGGGCAAGCTGTCGGTGAACTTAACCAAAAGAAAGAAGGATTCCGAAGCACCGGTCAACCTTGGATGCCTGAAGAAATGACGCAACTGGTTAGCCTTTACAATGGACTCAAAAGATTAATTGAACAGAGGGTAGAACACCTTGACGACACTCTTGAATCTTTCGAGGACCATCAAGCCATGGCTATGCAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa11274
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000091828 | Nonsense | 4981 | 8759 | 76 | 143 |
Genomic Location (Zv9):
Chromosome 17 (position 7823778)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 17 | 7826552 |
GRCz11 | 17 | 7983730 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TYCAATTGTTTCTTTTGTAGATTACAKTAGAGCAAGCTCTTGTCTTGTGC[C/T]AGAAGTACCACTCCAGAATGCAAGCAGCATGTGAGTGGCTTGAGGATGCT
Long Flanking Sequence:
ACCACCTATAGGACACTCCTCATCATATGCACTAGACATTGTCTTATAAAACTATTGTGATAAAAATATTGTGCAGGTCTGAGTGTACTTAATGCAATTGAGCGAGCTTGACACATCCCCTGTAGAAGGCACAGTCATTTCCTCTATATGTACCAGACTTTCTTATAAACACTGCATGTTTCTGGGAAAATGTAGTGCAATTCTAAGTGTACTTATTGCAGGTGAGTGGACTTGACAAACCACCTGTAGAAACAGTCTTTTCCTTTCCAAATGCTCTAGACACTTTCTTATAAACGTGTATATTTAAGTATGTGTACTAAAAAAATCAGTTAAAAAAACTAAGGCCTGTAGATGCATCGTCCAACGTGAAATGCCAGTGTGTTTACCAAGTGTTTAACTACCTAAGCCTGCAAAACTTCCTTATTCAGCCAATGCTAACTCACTAATGAATCCAATTGTTTCTTTTGTAGATTACATTAGAGCAAGCTCTTGTCTTGTGC[C/T]AGAAGTACCACTCCAGAATGCAAGCAGCATGTGAGTGGCTTGAGGATGCTGTGGGCTTTTTGCAGCAGGCCAGTCTTGGGGTGGATGTAGAGAACTACGAGGAGTGTCTGAGGCAACAAGAGGACATCATGGCCACTGAGCAAGAGTTCCTGGGGGTTCTCGAGGAGCTGGAATCTCTGCCACCGCAACTTGAAAACCTTGTCAACCCTACAGCCAAAGAGCAGCTTCGACTGAGTGTGGAGTCTGCACAGCAAAGAGGTGTGGAGGTCAGAGACCAGCTGCAGTGCCACCAAGACGTCTTAAACAGGTTCAGTTTGGTACAGATTTATTATATTGTATTGAATTAAGAATACGATGCTAACGAAGACCAATGTGATTTTTATAGCTGTGTTGCTCAGTGGAATTCTTACCAAGAAGCCAGACAGACAGTCATTGACCTGATGAATGAGGTGGAGAAGAAGTTAACAGAGTTTTCCACAGCCAAGGCTGCAACAAACCAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa11252
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000091828 | Nonsense | 5087 | 8759 | 77 | 143 |
Genomic Location (Zv9):
Chromosome 17 (position 7823382)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 17 | 7826156 |
GRCz11 | 17 | 7983334 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AAGAATACGATGCTAAYRAAGACCAATGTGATTTTTATAGCTGTGTTGCT[C/T]AGTGGAATTCTTACCAAGAAGCCAGACAGACAGTCATTGASCTGATGAAT
Long Flanking Sequence:
ACTACCTAAGCCTGCAAAACTTCCTTATTCAGCCAATGCTAACTCACTAATGAATCCAATTGTTTCTTTTGTAGATTACATTAGAGCAAGCTCTTGTCTTGTGCCAGAAGTACCACTCCAGAATGCAAGCAGCATGTGAGTGGCTTGAGGATGCTGTGGGCTTTTTGCAGCAGGCCAGTCTTGGGGTGGATGTAGAGAACTACGAGGAGTGTCTGAGGCAACAAGAGGACATCATGGCCACTGAGCAAGAGTTCCTGGGGGTTCTCGAGGAGCTGGAATCTCTGCCACCGCAACTTGAAAACCTTGTCAACCCTACAGCCAAAGAGCAGCTTCGACTGAGTGTGGAGTCTGCACAGCAAAGAGGTGTGGAGGTCAGAGACCAGCTGCAGTGCCACCAAGACGTCTTAAACAGGTTCAGTTTGGTACAGATTTATTATATTGTATTGAATTAAGAATACGATGCTAACGAAGACCAATGTGATTTTTATAGCTGTGTTGCT[C/T]AGTGGAATTCTTACCAAGAAGCCAGACAGACAGTCATTGACCTGATGAATGAGGTGGAGAAGAAGTTAACAGAGTTTTCCACAGCCAAGGCTGCAACAAACCAGGAAGCTGAAGAGAAACTTAGGAGCCATAAGGTGAGCTTTGCATGCAGAATTGTGTCTCTGAGAAAAAGAAACAATCTACATGACCATATTAATCCAAGTAAAATGCTTTCATATATACCCCGCAGTCCTTAGTATCAATGGTGAACAGTTTCCAAGAAAAATTGACCGGTCTGGAGGAGCAAGCATCCCAGTTAGAGCAGATTGGAAGTGACGCCAGTAAAGCAACTATAAGTCGATCCATGACCACCGTGTGGCAGCGCTGGACCAGGTTACGCAGTGTAGCACGAGGCCAAGAAAGGGTGCTGGAGGACACGGCCCATGAATGGAGGACTTTCAGAGAAAAGGTGCAGTTCCTCTCTGTATGATGTTATGATGTTCTGGAAACTGAAGGTGCCA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa32119
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000091828 | Essential Splice Site | 5131 | 8759 | 77 | 143 |
Genomic Location (Zv9):
Chromosome 17 (position 7823247)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 17 | 7826021 |
GRCz11 | 17 | 7983199 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCAAGGCTGCAACAAACCAGGAAGCTGAAGAGAAACTTAGGAGCCATAAG[G/A]TGAGCTTTGCATGCAGAATTGTGTCTCTGAGAAAAAGAAACAATCTACAT
Long Flanking Sequence:
GTGAGTGGCTTGAGGATGCTGTGGGCTTTTTGCAGCAGGCCAGTCTTGGGGTGGATGTAGAGAACTACGAGGAGTGTCTGAGGCAACAAGAGGACATCATGGCCACTGAGCAAGAGTTCCTGGGGGTTCTCGAGGAGCTGGAATCTCTGCCACCGCAACTTGAAAACCTTGTCAACCCTACAGCCAAAGAGCAGCTTCGACTGAGTGTGGAGTCTGCACAGCAAAGAGGTGTGGAGGTCAGAGACCAGCTGCAGTGCCACCAAGACGTCTTAAACAGGTTCAGTTTGGTACAGATTTATTATATTGTATTGAATTAAGAATACGATGCTAACGAAGACCAATGTGATTTTTATAGCTGTGTTGCTCAGTGGAATTCTTACCAAGAAGCCAGACAGACAGTCATTGACCTGATGAATGAGGTGGAGAAGAAGTTAACAGAGTTTTCCACAGCCAAGGCTGCAACAAACCAGGAAGCTGAAGAGAAACTTAGGAGCCATAAG[G/A]TGAGCTTTGCATGCAGAATTGTGTCTCTGAGAAAAAGAAACAATCTACATGACCATATTAATCCAAGTAAAATGCTTTCATATATACCCCGCAGTCCTTAGTATCAATGGTGAACAGTTTCCAAGAAAAATTGACCGGTCTGGAGGAGCAAGCATCCCAGTTAGAGCAGATTGGAAGTGACGCCAGTAAAGCAACTATAAGTCGATCCATGACCACCGTGTGGCAGCGCTGGACCAGGTTACGCAGTGTAGCACGAGGCCAAGAAAGGGTGCTGGAGGACACGGCCCATGAATGGAGGACTTTCAGAGAAAAGGTGCAGTTCCTCTCTGTATGATGTTATGATGTTCTGGAAACTGAAGGTGCCATAGAGTGCATTGATGTAATATGTTAAATTGTTTTCTGATATCTACATAGGCTTAGGTAAGTTAAAAATTCTCTAAAAATGGTTTTGCTCATTTATAACTATTGAAATCACCAATAAAATGAAAATATTGGTTTTG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa10495
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000091828 | Nonsense | 6925 | 8759 | 111 | 143 |
Genomic Location (Zv9):
Chromosome 17 (position 7764448)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 17 | 7767222 |
GRCz11 | 17 | 7924400 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TTTCTGTGGTTTTCCTCCTGTAGGGCTTCAGGGTGGATGTGAACTGCAAA[C/T]AGCTCACTGTGGACTTTGTKAACCAGTCAGTGCTCCAGATCAGCGGTGCG
Long Flanking Sequence:
GCAATTTGAATGCTCAATTAGGCAAGTCATTGGACAGCGGTGGTTTGTTCTGTAGCCAATAAAAAATAACAGTTTCTTTAGGAGGATAACAATATTGACCTCAGCAGTTTAAAAAAAAAAAAGTTTTTCCATTTTAAAAAAAAGTAGAAGAAGAAAAATGAAATATTGCCTTGCAGACATCATTTGGCAAATGTTTGAATACTAATTTCAAAGGGGGGCTAATAATTTCAAGGATCTCTCGAGCTCAGGGCTCTCTCCCAGGACAGCGTTCCAGCAACTTTTGGAATCTCAAAAAAACTCTAAAACAGAAGAGGCGCTTTCCGAAGGAATCATAGACATATTAATCACAAGCTTGTAGCAAACAATTCAGCTTTTTTGCTCATTTTTTGAAGTTTGAACAACAAAGACATTTCCCCCTAGCCTTCATTGCTCATATTTACTCCTGGTTTCTTTCTGTGGTTTTCCTCCTGTAGGGCTTCAGGGTGGATGTGAACTGCAAA[C/T]AGCTCACTGTGGACTTTGTTAACCAGTCAGTGCTCCAGATCAGCGGTGCGGACGTCGAGAGCAAGCGCAGTGATAAAACTGATTTTGCTGAAAAACTGGGCGCCATGAACTGCCACTGGCAGATCCTGCAGACACGCATCACAGAGAGGGTAAGACTTCACATTACTGTGACTCTTCAAAGAGAGGATTTGTAGATAACTTCAGTATGAGCTGTGCTACCAAATTATTACTAATAGAAGTCTTCTTCATCATAAGTTTTTTATTATTAAAATACTAGTTGCACTGTATTTCGTAGTATTTGTGTACTTATAGTAATGTAAAATACTGGCTTTGGGCTTAGCTCCTATTTTTTACCTAGTTCATTGAATGACTATGATAAGCAAATCGTATCCACATATGAAACAGAACTGTGGAATAAAGAGCTACAAGAATACTTGAAGTCTATTGTTATACTTTATTAGTAGGTGTGCTTATATCAGTGGATTAAAAAGTAAATATTC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa13678
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000091828 | Nonsense | 7045 | 8759 | 113 | 143 |
Genomic Location (Zv9):
Chromosome 17 (position 7761339)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 17 | 7764113 |
GRCz11 | 17 | 7921291 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGGAGGTGAYGGTGAARGAGAAAGAGAGAGAGCTGGAGAGAGTGGAGGAA[C/T]AGGCCTGTGCTCTCGTCCAAAACAAGACGGACGAGGCCTGTGCTGTCGTG
Long Flanking Sequence:
ATAATCTAACCATGATAGTTATAATAACTCATTTCTATTAAGTGATTTTTTTAAATCTTTGCCATGATGACAGTACATTATAATTTACTAGATATTTTTCAAGATACTAATATCAGCTTAAGGTGAAATTTAAAGGCTTAACTAGGTTAATTAGGCAAATCATATAGTATAATTATCGTTTGTTTTGTAGACTATCGAAAAGAAATATTGCTGTAGGGGGCTAATAATATTGACCTTAAATGGATTTTAAAAAAATTAAAAACTGCTTTTATTCAAGCTTAAATTAAGCAAATAAGACTTTTTCTAGAAGCAAAAATATTATAGGAAATACTGTGAAAAACTCCTTGCTTTGTTAAACATTATTTGGGAAATATTTAAAAAAGAAAAATTCACAGGAGGACGAATAATTTAGACTGTATTTGTCTTTATGTGATGTGTAACTGCAGGAGATGGAGGTGATGGTGAAGGAGAAAGAGAGAGAGCTGGAGAGAGTGGAGGAA[C/T]AGGCCTGTGCTCTCGTCCAAAACAAGACGGACGAGGCCTGTGCTGTCGTGATGGAGTCTCTACGAGCCCTCAACAACACATGGGCCAATCTGGACCACCTGGTATTTTGTTTAGACCTTCAGTATTGTATTACATTTCAAACAGAAAATATATATGGTTCTGTCTTATTTATTAAATGATATATATGGTGTATTTATTTATAACCTCGTGGTTAAGAATATTGAGGCTAAAGCATCAAACTGACATCATCAGAAAAGGACCGCCACTGCAAGCGCAGAAGCAAACTTTAATTGAAAATTACCACAACAAACAGTTTTTCAGTGGATTGGCTTGTACGGGTTAATTGTTTGCCTAAAGAATATCAATGTGTGCTAGCAAAATAAACATTGGCTGCGTCCGAAACCACCTACTACTCAGTAGGTACTGCATTTGAATGTAAACATACTACTCGGCCGTTAGAAAAGTACGTTCTATACAGTATGAATGTGAAGAGTACTATA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa11189
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000091828 | Nonsense | 7527 | 8759 | 122 | 143 |
Genomic Location (Zv9):
Chromosome 17 (position 7741272)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 17 | 7744046 |
GRCz11 | 17 | 7901224 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GACGGGCACAGCAGCGACGGGGCATCATCGACAGTCTCCTGCGCCAGTGG[C/T]AGCGCTACCGGGAGATGGTGGARAAGCTYCGCAAGTGGCTGCTGGAGGTC
Long Flanking Sequence:
GACTGTCAAATTGTTTCAATTCAACTGAGATTGTGATCTTTTTAAAAGAGGGCGGAGCTACAAAGCCTATGTGTCAGCATGGTGGCAGATTTAAAAACAAGACTAACGTCGTATGCTAATGAGAGAGATATCATCACTAATGGGCGGGGCTTTCCAACTCTGATGACACGTATAAAGGAAGAATGTCAATCAAAGTGTTTCTGCAGACTGTTTTTATCAAGTGTGATTATAAACAAATAAAATGTATGCATTTTTACCATTAAAGGCTGATTATATTTACAGACTGTCACCACAATACTGTGTTTAAACCCCTTATAAAAGTGATTTTCGCATAATAGATCCCAAATACATGAACGGATTTGATGCTTCTGTTTGAAACTGTCCTTGTTTGCAGAGATGAGTTCAAGCTGAAGCTGGCTCTGCTCAGTAACCAGTGGCAGGGTGTGGTGAGACGGGCACAGCAGCGACGGGGCATCATCGACAGTCTCCTGCGCCAGTGG[C/T]AGCGCTACCGGGAGATGGTGGAAAAGCTTCGCAAGTGGCTGCTGGAGGTCAACCATCAGACCCAGAGCCTGCAGGCGGGGACACCAGTGCCACTGCAGCAGGCACGAGCCATGCTGGATGCAGTTCAGGTAGATAACCTCCCAGAACATCTTAAAGGGACAGTGAAATAAAAAACATGCTTTTTAGATGTTAGTATCAGTCTGTTGTGTTCTCCAAAACAATGACAAAATTTGCATTTAGAAGATATAGAACTGATATATACATGTAATTCATGTAGTCCGTCACTTCCGCCTAAATGGATCAACGTTTTTTTTTTACACCTCACCTAAAACTTCCGTTTTTTTTTTGCCAAACCTACCAAGTAGGTTTTTTGAAGCATCCTCGAGATGTTGCCAAAGTTGTTCTGGATTTAGTTTTTTCTCAGTTTGTTCTGTTTTTTCATGTCATTCCAGACAGACGGATCAGATAATGATCAGATCAGATCTCTGTGAGGAGCACTG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa14747
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000091828 | Essential Splice Site | 8065 | 8759 | 131 | 143 |
Genomic Location (Zv9):
Chromosome 17 (position 7719364)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 17 | 7722138 |
GRCz11 | 17 | 7879316 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CTGGGATAACCTGCAGAGRAGAGTGTCATCCGTCCTCCGSAGACTGAAGG[T/C]ACAGRGACTATCAATAAGATGGTAGTTAATCAGTCTTGAGTTCAACACAT
Long Flanking Sequence:
GAAGTGCAGAAGGGTTACTAAAGAACTACTGAGAGATTTCAGCTGCTGCCTGGGCTTTCACTGCCTTTCTACACCTCCCTTTCTACATGTGTTCATTAATTTTTCCCTGCGTCTTTTTATTTTATCATGCATATTATTATGCATAACTTAATTTGTTAACTAATTAGATTTGTTTTCTTATATATTGGTTGTTACCAACATCTGGTGAACATTTCAAGTCAACAACACCACTGTTATACCATACAATCATACACTGAATCAACATAGCGTCAGTGTAAAGTCTGATAGTATTAACACTCTTTAATCTACTTTATAGACGTTCCAGCGGCATGTGCATGAAAGTTTGACACAGTTGGAGCTGATCAACAAACAGTATCAGCGACTGGCACGTGAGAATCGCACCGATGCAGCCTGTAGTCTGAGAGAAATGGCCCACAATGCCAATCAGCGCTGGGATAACCTGCAGAGAAGAGTGTCATCCGTCCTCCGGAGACTGAAGG[T/C]ACAGAGACTATCAATAAGATGGTAGTTAATCAGTCTTGAGTTCAACACATGTTTTAATAGCACAAAACTGTGAATGTGTCTTATTTTACATTTGTACTAAACCAACAGAAATTAAAGGTGCAGTAGGTGATCTAACCGGTTAGCATAATATCTTTGAAACACAGTCCCTCCCCTGCCATCCAAAGCCACGCCTCCTGAAGTCATGAAGGCACGTTAAAGATGACAGAAACCCACTAGGTCAGGGGTGTCCAAACTCGGTCCTGGAGGGCCAGTGTCCTGCAGATTTTAGCTCCAACTTGCTTCTACACACCTGCCAGGAATCTTCAAGTTAGGTCATGTCATTCACCAGTTAAAAAACGTTATAGTACTTTATAATACTACAAATGTTAACGAAAAACTGTATTATATCTAGCATATTTACAGTTGTGTAGCAAGCAAAACTTAATAATAGCATAATGTGCAATATTTCATGCATGCAACGATCACTGGTCTCACTCTCT
Associated Phenotype:
Not determined