ZMP
ADAMTSL3
Ensembl ID:
Description:
ADAMTS-like 3 [Source:HGNC Symbol;Acc:14633]
Human Orthologue:
ADAMTSL3
Human Description:
ADAMTS-like 3 [Source:HGNC Symbol;Acc:14633]
Mouse Orthologue:
Adamtsl3
Mouse Description:
ADAMTS-like 3 Gene [Source:MGI Symbol;Acc:MGI:3028499]
Alleles
There are 15 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa40844 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa11069 | Essential Splice Site | Available for shipment | Available now |
sa10958 | Nonsense | Available for shipment | Available now |
sa40843 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa34013 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa38594 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa25354 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa17662 | Essential Splice Site | Available for shipment | Available now |
sa20869 | Essential Splice Site | Available for shipment | Available now |
sa26898 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa40842 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa34012 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa40844
Status:
Mutation detected in F1 DNA
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:
Not yet available
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000052750 | Essential Splice Site | 489 | 1760 | 12 | 30 |
Genomic Location (Zv9):
Chromosome 7 (position 13343978)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 12272092 |
GRCz11 | 7 | 12525053 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACTGCAACACCTTTGACTGTCCGCAGTGGATGGCCATGGAGTGGTCTCAG[G/A]TTAGTGCAGGGTTTCCGCACTATATACACAATATTATCGAATTTAAAAGA
Long Flanking Sequence:
ACACTCATACCGCAATTATTTGGACTGAGGAGGAAACTGGAGCACCAGGAGGAAACCAACGCCAACACAGGGAGAGATATGCCTATATATACTGTATATATATATATATATATATATATATATATATATGAATAGTTGGCGGTTCATTCCACTGTGGCAACCCCTGATAAATAAGGGACTAAGCCGAAGGAAAATGACTGAACTTTGGCTGCTTTTCCAGGTTGTTGAGAGCCTGTATGTAAGCTAGCATTGATCCAGTAATGTGATCAAGTGTTGTTGTGTCCTCTTGGTTCAGATGGGAGCAGAACCCGTGGACGTCGTGCTCGGTGTCGTGCGGAGGGGGATCTCAGGAGAGGAGTATCGTGTGTGTGGAGGAGGACGTTCATGGTCAGATTGTGCAGGTGGAGGACTGGAAGTGCACACACTCACCTCGACCAATCAGCAAACAGAACTGCAACACCTTTGACTGTCCGCAGTGGATGGCCATGGAGTGGTCTCAG[G/A]TTAGTGCAGGGTTTCCGCACTATATACACAATATTATCGAATTTAAAAGAACTATTCCAGACATATACAAGGGTTGGACAATGAAACTGAAATGCCTGATTTTAGACCATGATAATTTATTAGTATGGTTTAGGGCCCACTTTTGCGGCCAACACAACATCAATTCATCTTGGGAGTGAAAGACACAAGTCCCGCACAGTGACCAGAGAAATTCTGATCCATTACAGGATGCTGGTGGAGGAAAAGGTTTGCTGACTCGCTCCTTCCAAAACAACCCAAAGGGACTCAATAGTATTTAGGTCGGGTTACTGTGCAGGCCACAGGAGATGTTCAACTTCCCTTTCGTGCTCATCAACCCATTCTGTCTCCAGTCTTGCTGTGTGTATCGGTGCATTATCATCCTGATACACGACACCGCCTTCGGGATACAATGTTTGACCCATTGGGAGCACAGCGTTCTTCAGAATGGTTCGGTAGTCCTTGGCAGTGACTCAGAGCCA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa11069
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:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000052750 | Essential Splice Site | 489 | 1760 | 12 | 30 |
Genomic Location (Zv9):
Chromosome 7 (position 13343977)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 12272091 |
GRCz11 | 7 | 12525052 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CTGCAACACCTTTGACTGTCCGCAGTGGATGGCCATGGAGTGGTCTCAGG[T/G]TMGTGCAGGGTTTCCGCACTATWTACACAATATYATCGAATTTAAAAGAA
Long Flanking Sequence:
CACTCATACCGCAATTATTTGGACTGAGGAGGAAACTGGAGCACCAGGAGGAAACCAACGCCAACACAGGGAGAGATATGCCTATATATACTGTATATATATATATATATATATATATATATATATATGAATAGTTGGCGGTTCATTCCACTGTGGCAACCCCTGATAAATAAGGGACTAAGCCGAAGGAAAATGACTGAACTTTGGCTGCTTTTCCAGGTTGTTGAGAGCCTGTATGTAAGCTAGCATTGATCCAGTAATGTGATCAAGTGTTGTTGTGTCCTCTTGGTTCAGATGGGAGCAGAACCCGTGGACGTCGTGCTCGGTGTCGTGCGGAGGGGGATCTCAGGAGAGGAGTATCGTGTGTGTGGAGGAGGACGTTCATGGTCAGATTGTGCAGGTGGAGGACTGGAAGTGCACACACTCACCTCGACCAATCAGCAAACAGAACTGCAACACCTTTGACTGTCCGCAGTGGATGGCCATGGAGTGGTCTCAGG[T/G]TAGTGCAGGGTTTCCGCACTATATACACAATATTATCGAATTTAAAAGAACTATTCCAGACATATACAAGGGTTGGACAATGAAACTGAAATGCCTGATTTTAGACCATGATAATTTATTAGTATGGTTTAGGGCCCACTTTTGCGGCCAACACAACATCAATTCATCTTGGGAGTGAAAGACACAAGTCCCGCACAGTGACCAGAGAAATTCTGATCCATTACAGGATGCTGGTGGAGGAAAAGGTTTGCTGACTCGCTCCTTCCAAAACAACCCAAAGGGACTCAATAGTATTTAGGTCGGGTTACTGTGCAGGCCACAGGAGATGTTCAACTTCCCTTTCGTGCTCATCAACCCATTCTGTCTCCAGTCTTGCTGTGTGTATCGGTGCATTATCATCCTGATACACGACACCGCCTTCGGGATACAATGTTTGACCCATTGGGAGCACAGCGTTCTTCAGAATGGTTCGGTAGTCCTTGGCAGTGACTCAGAGCCAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa10958
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 |
---|---|---|---|---|---|
ENSDART00000052750 | Nonsense | 508 | 1760 | 13 | 30 |
Genomic Location (Zv9):
Chromosome 7 (position 13342965)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 12271079 |
GRCz11 | 7 | 12524040 |
KASP Assay ID:
2259-8494.1 (used for ordering genotyping assays)
KASP Sequence:
GTCACCTGTGGTCCAGGTTTGCGCTACAGAGTTGTTCTGTGTGTGGATTA[T/G]AATGGTCAACACGCCGGTGGCTGCAATCYTCACCTCAAACCTCATATCAA
Long Flanking Sequence:
TATTGGGCCTCAGGAATACTATAATATTGCTGCCCAATATAACCCCCCCCCCATGCTTTACTCTGGGCATGCAACAGTCTGCGTGGTACACTTCTTTGGAGCTTCTCCACACCGTAACTCTCCCGGATGTAGGAAAGACAGTGAGGGTGGTCTCATTAGAGAACAATACATGTCTCACCTTGTCCACCGCTCAAGTTTTCGCTGCTGGCCCTTTTGAAACTTACGTTTAGTACCCGGATATCTCTTTCAGACAGCTTCCTCTTGCATCCACAGTTGAATTTGGCTTGTCCATCATCGTGATATACTGACATTACTCTGGATATCGTGGCAGTTTATACATCACAAAGATAAGCGGTCTTAGTCACAGATCCGCCAGTGAGATGAGCACTAACAATGATTTGTCCTCTTTCGAATTCTGAATATTTGTGTATGTGTGTTTTCCAGTGCACGGTCACCTGTGGTCCAGGTTTGCGCTACAGAGTTGTTCTGTGTGTGGATTA[T/G]AATGGTCAACACGCCGGTGGCTGCAATCCTCACCTCAAACCTCATATCAAAGAGGACTGCCTCGTCCCCATCGCATGCCACAAACCACGAGGTAAAAGACCACATCTGTACACCTTCAAGAGCAATGGACATAGATGAACACATAGGGCTCTATTTTAACGGTCTAGGCACACAGTCTGAAGCGCAGGGCGCAAAAGCATTAAGGCATGTCCGAATCCACTTTTGCTATTTTAAGGACAGGAAAATCCGCTTTGCGCCGTGGCGCATGGTCTAACAGGGTTGAGCTAATTCTTTTAATGAGTTATGGGTGTAATTTGAGAATAAACCAATCAGATCACCGATCATCTTATCTCCAATTCCCTTTAAGAGTCAGTTGCTTCGCTCCATGGCACATTTGCTATTTACATGACGGTTTTAGAGGGGTTTTGGCCATTTCCAGGCTGGTTTCCAGCCATTTCCAGCCTGGTTTTAGCTGGTCAGGCTGGGAGATGACCAGCTAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa40843
Status:
Mutation detected in F1 DNA
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:
Not yet available
Mutation:
G > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000052750 | Nonsense | 634 | 1760 | 15 | 30 |
Genomic Location (Zv9):
Chromosome 7 (position 13308690)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 12236804 |
GRCz11 | 7 | 12489765 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AAGGAGCTGTGATTCAGGGCCCTGTTTGGCAGCTCCAGACTCCTCGCGGT[G/A]GCCCCTGAGGACCCCTGAGGGCCCCAATCAGCATGGTTATGCTTGGGAGT
Long Flanking Sequence:
AAAGCCTGGTAAGGTCTAACAGTGTAGTTAACCTAATTAACCTAGTGAAGCCTTTAAATGTCACTTTAAGCTGTATAGAAGTGTCTTGAAAAATATCAAGTAAAATATTATTGACTGTCATCATGGCAAAGATAAAATAAATCAGTAATTAGAGATGAGTTATTAAAACTATTATGTTCAGAAATGTGTTGAAACAATCTTCTTTCCATTAAACAGAAATTATTGGAAAAAATAAATAGGGGCGTTAATAATTCAGGGGGGCTAATAATTCTGCCTTTAACTGTATATGTGTGTGTGTAGGTTTGTCCCGGAGCCGTGGTCATCCTGCAGTGTGTCTTGTGGTCTGGGCATCCAGCGGCGTCAGGTGAAGTGTAAAGTGCTGCTGTCCTTCACTCAAGCTGAGGTCGAACTGCCTGATGAAGAGTGCCATGAAGAAAAGCCTTCCTCTCAAAGGAGCTGTGATTCAGGGCCCTGTTTGGCAGCTCCAGACTCCTCGCGGT[G/A]GCCCCTGAGGACCCCTGAGGGCCCCAATCAGCATGGTTATGCTTGGGAGTACATTGGCTTCACTGCTTGCTCTGCATCATGTGCTGTCGGTGAGTCTCCACTGAGGTACACATGAAATCAAAACGGTAACACTTTACAATAAGGTTCATTAGATAATGCATTTACTAACATGAACTAATCATGAACAACACATGTGCAGCATTTATTAATCATAACTGAACATTTACTAACGCATTATTAACATCCAAGTCCATGCTTTTTAACATTAGTTAATGCACCATGGGTTAACATGAACTAACAATGAACTACTGTATTTTCATTAACTAACGTTAACTAACATGAACAAAAACAGTAGTAAATGTGTTGTTCATTGTTTGTTCATGTTAGTAAATGCATTAATTAACAATAACTAATGAACCTTATTGTAAAGTGTGACCATCAAAACTAACCATAATGATTGTGTTAGCTCATATTGCTAGATTTGTGGTGAACAATTCATC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa34013
Status:
Mutation detected in F1 DNA
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:
Not yet available
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000052750 | Nonsense | 1169 | 1760 | 20 | 30 |
Genomic Location (Zv9):
Chromosome 7 (position 13282456)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 12210570 |
GRCz11 | 7 | 12463531 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTTCTGAACTTTTTGGTACGGAGGTTTCAAAAATAGCAGCAATCGTTCGA[C/T]AGAAGCATCACGGATCTGTTATGAGCTTCCAGCGGGATCTCAGGATCCAT
Long Flanking Sequence:
GGCTCCTGGATCATCCGAGTTTGGGAAAGGAAAGAAGGGGGAACTTTCATCCATACCTCAACAAAGAAGGAGGTTTTGTTAGTTCGAAATGCAATGAAGGATTCACGAATGGAAACAAGGCTTCGAAATCAAGTTGGATGCAAAAAAACGAATTCTACAGAGACGATGATGGACATCCCAAGGAGATGCTTTGGGATACTCTTGCTTTGGGAAACTATGCTTTGGCTTCAAGCACTAGTAGCCACACAGGAGCCTTCGTTCTTGAACCTGCACAATTTGAGGAGCTTGTGAAAAACATCAGTCAGCTTGCAGAGAGTGGCGATGTGACGGATGAAATGGCGTCGCAACTAATTGGGAAACTACTAGAGGACTTGGCTGCTGCAGGGCAAGGGCAAGTTCCTATTGAGGAAAGCACTACAGTGGACAATTATTTAGATAGGACGTCAAACACTTCTGAACTTTTTGGTACGGAGGTTTCAAAAATAGCAGCAATCGTTCGA[C/T]AGAAGCATCACGGATCTGTTATGAGCTTCCAGCGGGATCTCAGGATCCATGTGGGAAGGACTGCTTACCTGACCAATGCAACCCACAGCCTTACACTGTTGTGTCCCAGTAAGGGATCACCAAAGCCAAAGCTCTCCTGGACCAAAGATGGAGCTCCACTGCAGGACATCAACAGGTAAGAGCTGCAATGTGTTGTTGAAAAAGCATTGGTGTTGCAGAATCTCTCTTTCTACATACAGGTGAACTGAAAATTAATCGTCCTCCTCTGAAATATTTCCCAAACAATGTTTGATAGAGTAAGGAGGAAGAAAAGCCTATTCCCAGCCACTAGACCTTTTTGACAGGGAATTCGAGTGTCAGATGTGTGAAAGTTTGACTACTATACAGGAGTTATTATTATGTAATGTAATGTGTATTTATATAGCGCATTTATTGTGTATGGCCATACACCCAAAGCGCTTCACAATCATGAGGAGGGTTTCTCCACACCACTGCCAGTG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa38594
Status:
Mutation detected in F1 DNA
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:
Not yet available
Mutation:
C > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000052750 | Nonsense | 1252 | 1760 | 21 | 30 |
Genomic Location (Zv9):
Chromosome 7 (position 13265485)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 12193599 |
GRCz11 | 7 | 12446560 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GAACTGCACATCTCCAGCCCTGGTGCCAGTGATGTGGGCATCTACAGGTG[C/A]ACCTCCACCAATGAACTGGGCTCAGATTCAGAAACAACACAAGTTCTGTT
Long Flanking Sequence:
GTTTGATCAACTAGTTACTTTAAATCTCTATACTAAAAAAAAAAGATTAAACCAGCCTAGGCTGGTTGGCTGGTTTAAGCTGGTCGACCAGGCTGGTTTTAGAAGGGTTTTGAGCATTTCCAGGCTGGTTTCCAGTCATTTCCAGCCTGGTCAGGCTGGGAGATGACCAGCTAAAATCAGCTTGACCAGCCCTAATTAAATAGATAATTGTGGTTTTCTGTTGGTAGATCTCACACCGCTAACATGTGACCGCTAACATGTCATCTTAGAAGAGACAGAAGTCTGTCAATTAAAGATTCATATAAACATCAAAAAACATTGTAATATTTTCTGTTGACGTTAATAGTACATATGTGTAAATGGGAAATGTAATAAAGCTATTTGCCAATAATAGGACAGTATAGCTGATCTCTCACTCTCCCCAGGGTATCATGGGACAGCAGTGGTGGAGAACTGCACATCTCCAGCCCTGGTGCCAGTGATGTGGGCATCTACAGGTG[C/A]ACCTCCACCAATGAACTGGGCTCAGATTCAGAAACAACACAAGTTCTGTTAGCCGGTGAGACACTGCACACTTTTATCACAAGGACTCTCAAAATCTATTGTTTCAGAATGTCATGAAATGCATGAAATAAATCATGTGTAATAATAAGTGCTAGTTTACTCAGAATAAAGCTTAAGGTAACACTTCAACTCAAGTACCAATTCTCCCTATTGAATCGTTGCTTATGAGCTGCCTAATATTAAGACATTGCCTGTTTTGTAGTACTTGTACATATTCTGCATGACTTTATTCTACCTTTCTATATCTTGCCTCAATCAAACCTTAACTATTAATAAGCAGAAAATTAGGAGTTTATTAAGGCGACAATAATAGATGGTTTATTATAAAATGAGCTAGTTTTATTTTATAATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa25354
Status:
Mutation detected in F1 DNA
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:
Not yet available
Mutation:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000052750 | Nonsense | 1269 | 1760 | 21 | 30 |
Genomic Location (Zv9):
Chromosome 7 (position 13265435)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 12193549 |
GRCz11 | 7 | 12446510 |
KASP Assay ID:
554-7550.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CACCTCCACCAATGAACTGGGCTCAGATTCAGAAACAACACAAGTTCTGT[T/A]AGCCGGTGAGACACTGCACACTTTTATCACAAGGACTCTCAAAATCTATT
Long Flanking Sequence:
ACCAGCCTAGGCTGGTTGGCTGGTTTAAGCTGGTCGACCAGGCTGGTTTTAGAAGGGTTTTGAGCATTTCCAGGCTGGTTTCCAGTCATTTCCAGCCTGGTCAGGCTGGGAGATGACCAGCTAAAATCAGCTTGACCAGCCCTAATTAAATAGATAATTGTGGTTTTCTGTTGGTAGATCTCACACCGCTAACATGTGACCGCTAACATGTCATCTTAGAAGAGACAGAAGTCTGTCAATTAAAGATTCATATAAACATCAAAAAACATTGTAATATTTTCTGTTGACGTTAATAGTACATATGTGTAAATGGGAAATGTAATAAAGCTATTTGCCAATAATAGGACAGTATAGCTGATCTCTCACTCTCCCCAGGGTATCATGGGACAGCAGTGGTGGAGAACTGCACATCTCCAGCCCTGGTGCCAGTGATGTGGGCATCTACAGGTGCACCTCCACCAATGAACTGGGCTCAGATTCAGAAACAACACAAGTTCTGT[T/A]AGCCGGTGAGACACTGCACACTTTTATCACAAGGACTCTCAAAATCTATTGTTTCAGAATGTCATGAAATGCATGAAATAAATCATGTGTAATAATAAGTGCTAGTTTACTCAGAATAAAGCTTAAGGTAACACTTCAACTCAAGTACCAATTCTCCCTATTGAATCGTTGCTTATGAGCTGCCTAATATTAAGACATTGCCTGTTTTGTAGTACTTGTACATATTCTGCATGACTTTATTCTACCTTTCTATATCTTGCCTCAATCAAACCTTAACTATTAATAAGCAGAAAATTAGGAGTTTATTAAGGCGACAATAATAGATGGTTTATTATAAAATGAGCTAGTTTTATTTTATAATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAATTTATTTATTTATTTATTTTTTTTTTCTGTGCAAACTGATGCATTTTAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa17662
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 |
---|---|---|---|---|---|
ENSDART00000052750 | Essential Splice Site | 1313 | 1760 | 22 | 30 |
Genomic Location (Zv9):
Chromosome 7 (position 13263479)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 12191593 |
GRCz11 | 7 | 12444554 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TATCCGGGTCCGTTCTGGTGCCAACCTCACCCTGGAGTGTCCCGTCAAAG[G/A]TGAGTGAAGATTNNTACAGAAATTACTTTTTACATATTTAAAGAAGTCAT
Long Flanking Sequence:
ACATTTGTAGGATTGAGTCCAAACAATGCCACTAAAAGACACGGTTCAATTTTTATAAGAGCTAGTTTTATTTTAGACAACTAATTTAGCTTCATTTTAATATATTTAGTGAATGAAAGATTGCAAACAGTTCAGTTGTTTGCTGTTTTTGTTTGTTTGTGTTGTTTTAGATACTGTAAGTATAGAATGATGAATATTTATGTTTTGGTGTACTGTTTAATCTGATGGAGAAAGAAAGAAAGATCTAAAGAAAAGCCCAATTTTAAAGTCTCACGAGCTTATTGTTTTCTAAAATAAGTATTGTGGATTGAACTCAGTTGTGTTCTGCTAGACCCCCAATAGTGACTCCATTTCATGCCATTTTTAAACAGAAAGTCCCACGATCGCTGCCTCACGCAGAAACACATCAGATCTGAAGAGTACGAGCCTGAAGGTGGTGGTTGGAGGTGTTATCCGGGTCCGTTCTGGTGCCAACCTCACCCTGGAGTGTCCCGTCAAAG[G/A]TGAGTGAAGATTATTACAGAAATTACTTTTTACATATTTAAAGAAGTCATCATATGTCTATACAGGGCCGGAGTGGGACTCCTTTTCAGCCCTGGAGTTTCAAGCCTCAGACCGGCCCACCTCATTTCACGACTGACTATATTAAAATAAGGTCGTTTCCAAATCAGTTTCTAATGACACTATCACGTCTTGTTTTTTGAGAAAACAGCTGCTTTAGAACTTCAAATGTTTAACAACCCTAACAGTATTACATGTCTTAACAATAAAAATGAAAACAATAAATTGCTCTAATGAGGATCGAACCTGGGTCTGCAGTGTCTTAACCTAACGTGTTAACCGCTGGACCACAACAGCTGTGTATGGTGCTGAGACACAACTGAGTTTTATCATATGAATAAAAAGGCTGTGGTCAAGTAAATAAATAAATTTAAAAAGTGTGACTGCTGAGAGCAACAGATTCTGGAGCTAGGGACACCGGCCCTCGCGGCCAAAAAACGGAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa20869
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 |
---|---|---|---|---|---|
ENSDART00000052750 | Essential Splice Site | 1374 | 1760 | 23 | 30 |
Genomic Location (Zv9):
Chromosome 7 (position 13246572)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 12174686 |
GRCz11 | 7 | 12427647 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGCCAACACCATCGGCAAATCCGCTGCCTCCAGCCGGATCAGTGTGGAGG[G/A]TGAGTAAAGACCACGGGATACTTCAAAGAAAGGTTTTTTTGTGGGCAAAA
Long Flanking Sequence:
GGAAAGAAATCTGTGAACTCAATCAATGATTATTTTAAATTAATTAGCCTGACATGTTTACTGTTCCAAAATGTTTTCAGTACATCTTAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATTATGTTCAATGTGAAAAAAGTTGCTGTTTTTGGGATAGTAGTAATCCCAATACCGTGATATTTTTTTCCAAGGTTTTCATACCGTCAGAGTCTATCGGCCCATGCCTAGTGAATGGACTGATTTGCTGTTTGTCTCTGGGCAGGTGTCCCCCATCCAGCAGTGAGTTGGCACCGAAAGGAGGGTCCGCTGGACGCCCGTGCTAGTCCTCTCCTGAGCGGATCACTGCTCCTTACAAACCTCACACAGCAGGATGAAGGCACCTACTCCTGCATCGCTGCCAACACCATCGGCAAATCCGCTGCCTCCAGCCGGATCAGTGTGGAGG[G/A]TGAGTAAAGACCACGGGATACTTCAAAGAAAGGTTTTTTTGTGGGCAAAAAGAAGTTTGAAAAGTCTGTTTTTGCACTAAGTTGCAGTGGGTGTGGTTGTAAATGTGTCACGCTGCTTACATGTACCTATAAACACAATGATGGTTTCATAAGCAACAGCCTTTCGCAAATCAGACGATAAAGCCTGTTTCACACTGCAGGCGTAAGCAGTGCATGAGCAGCGCATGAGCTGTGCGTGTTTTTTTCAGCATCCATGTTAACAGATTAGAGCTTTCATATGACACGCAGAGAGAGGCAGGAGTGTCGCTGAAGCAGCAGTGCCGCGATAGTTTCGGCACTGGGTCTATTTTTACCACGCTGCTCACGCTCAATTAAAGTGACAGTGTATTGATAATGACCAAAACACATTGAATGACAGTAAAAAGTAGCAATTTTACCCTTTAAATGCAGCGATAATATCAGCGATAGACTTATATATGGTCAATCAAATGAACTTAAAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa26898
Status:
Mutation detected in F1 DNA
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:
Not yet available
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000052750 | Nonsense | 1573 | 1760 | 27 | 30 |
Genomic Location (Zv9):
Chromosome 7 (position 13220655)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 12148769 |
GRCz11 | 7 | 12401730 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTTCCAGCTCCTGTGGGCGGGGCTTCAGAGAGAGGCGGGTCTCCTGTCAG[C/T]AGGTGGAAGCTTCTGGAAGTGTGAAGGTTTTGCCTAGTAGTGAGTGTGAG
Long Flanking Sequence:
CCTAATTAACCTAGTTAAGCCTTTAAATGTCACTTTAAGCTGTATAGAAGTGTCTTGAAAAATATCAAGTAAAATATTATTTACTGTCATCATGTCAAAGATAAAATAAATCAGTTATTAGAGATGAGTTATTAAAACTATTGTGTTTAGAAATGTGCTGAAAATTTTTTATCCTCGTTAAACAGAAAACGGGGAAAAATAAACAGGGGCGAATAATTCAGGGGGGCTAATAATTCTGACTTCAACTGTGTGTATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAAAGAAGGAAATCTGGATACATCATGCAATACTGAAAACTCCCAACTAAATGATTTCTCCTCTCTGTATGTGCTCAGCTGGGTGTCAACAGTGTGGTCGAGGTGTTCCAGCTCCTGTGGGCGGGGCTTCAGAGAGAGGCGGGTCTCCTGTCAG[C/T]AGGTGGAAGCTTCTGGAAGTGTGAAGGTTTTGCCTAGTAGTGAGTGTGAGGGCTCTCCTCGACCCGAAGACCGACAGGAGTGCAGCTCTCAGGCCTGTGTTGAGTGGATCTCTGGCCCCTGGGGGAAGGTACATTCACTAATGCTTTTATATGATCATTCTGATCTCTTTAATGTGGAACAGTCATCTAAAATAGTGGTCATAAGTACATTACCTGACAAAAGTCTTGTCGCCTATCCAAGTTTTAGGAACAACAAATAATAACTGGACTTCTAGTTGATCATTTTGTATCAGAAGTGGCTTAAATGAAAGGCAAAGGCCTCTATATGCTTATTTTACCAAAATAAAATATGATCATGCCTTTATTTTGAATGATTTGAGATCTGACTTTGCTTAGACACGTCTTGTCACTTAACAGAAATAATGTACAGTATAGAATGTAAAGTTTTTGCTTCCCATTTCAAAAACTAATGCAAAGCAACGTACTGTGATGTATAGAGG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa40842
Status:
Mutation detected in F1 DNA
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:
Not yet available
Mutation:
G > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000052750 | Nonsense | 1599 | 1760 | 27 | 30 |
Genomic Location (Zv9):
Chromosome 7 (position 13220577)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 12148691 |
GRCz11 | 7 | 12401652 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTTTGCCTAGTAGTGAGTGTGAGGGCTCTCCTCGACCCGAAGACCGACAG[G/T]AGTGCAGCTCTCAGGCCTGTGTTGAGTGGATCTCTGGCCCCTGGGGGAAG
Long Flanking Sequence:
ATTTACTGTCATCATGTCAAAGATAAAATAAATCAGTTATTAGAGATGAGTTATTAAAACTATTGTGTTTAGAAATGTGCTGAAAATTTTTTATCCTCGTTAAACAGAAAACGGGGAAAAATAAACAGGGGCGAATAATTCAGGGGGGCTAATAATTCTGACTTCAACTGTGTGTATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAAAGAAGGAAATCTGGATACATCATGCAATACTGAAAACTCCCAACTAAATGATTTCTCCTCTCTGTATGTGCTCAGCTGGGTGTCAACAGTGTGGTCGAGGTGTTCCAGCTCCTGTGGGCGGGGCTTCAGAGAGAGGCGGGTCTCCTGTCAGCAGGTGGAAGCTTCTGGAAGTGTGAAGGTTTTGCCTAGTAGTGAGTGTGAGGGCTCTCCTCGACCCGAAGACCGACAG[G/T]AGTGCAGCTCTCAGGCCTGTGTTGAGTGGATCTCTGGCCCCTGGGGGAAGGTACATTCACTAATGCTTTTATATGATCATTCTGATCTCTTTAATGTGGAACAGTCATCTAAAATAGTGGTCATAAGTACATTACCTGACAAAAGTCTTGTCGCCTATCCAAGTTTTAGGAACAACAAATAATAACTGGACTTCTAGTTGATCATTTTGTATCAGAAGTGGCTTAAATGAAAGGCAAAGGCCTCTATATGCTTATTTTACCAAAATAAAATATGATCATGCCTTTATTTTGAATGATTTGAGATCTGACTTTGCTTAGACACGTCTTGTCACTTAACAGAAATAATGTACAGTATAGAATGTAAAGTTTTTGCTTCCCATTTCAAAAACTAATGCAAAGCAACGTACTGTGATGTATAGAGGAATGAAACTATGGAATGAATTGCCATCAGACATTACATGCATTGTAACAAGTAAAATGAGGTTTAAAAAATCATTTAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa34012
Status:
Mutation detected in F1 DNA
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:
Not yet available
Mutation:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000052750 | Essential Splice Site | 1615 | 1760 | 27 | 30 |
Genomic Location (Zv9):
Chromosome 7 (position 13220525)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 12148639 |
GRCz11 | 7 | 12401600 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTGCAGCTCTCAGGCCTGTGTTGAGTGGATCTCTGGCCCCTGGGGGAAGG[T/C]ACATTCACTAATGCTTTTATATGATCATTCTGATCTCTTTAATGTGGAAC
Long Flanking Sequence:
ATTAAAACTATTGTGTTTAGAAATGTGCTGAAAATTTTTTATCCTCGTTAAACAGAAAACGGGGAAAAATAAACAGGGGCGAATAATTCAGGGGGGCTAATAATTCTGACTTCAACTGTGTGTATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAAAGAAGGAAATCTGGATACATCATGCAATACTGAAAACTCCCAACTAAATGATTTCTCCTCTCTGTATGTGCTCAGCTGGGTGTCAACAGTGTGGTCGAGGTGTTCCAGCTCCTGTGGGCGGGGCTTCAGAGAGAGGCGGGTCTCCTGTCAGCAGGTGGAAGCTTCTGGAAGTGTGAAGGTTTTGCCTAGTAGTGAGTGTGAGGGCTCTCCTCGACCCGAAGACCGACAGGAGTGCAGCTCTCAGGCCTGTGTTGAGTGGATCTCTGGCCCCTGGGGGAAGG[T/C]ACATTCACTAATGCTTTTATATGATCATTCTGATCTCTTTAATGTGGAACAGTCATCTAAAATAGTGGTCATAAGTACATTACCTGACAAAAGTCTTGTCGCCTATCCAAGTTTTAGGAACAACAAATAATAACTGGACTTCTAGTTGATCATTTTGTATCAGAAGTGGCTTAAATGAAAGGCAAAGGCCTCTATATGCTTATTTTACCAAAATAAAATATGATCATGCCTTTATTTTGAATGATTTGAGATCTGACTTTGCTTAGACACGTCTTGTCACTTAACAGAAATAATGTACAGTATAGAATGTAAAGTTTTTGCTTCCCATTTCAAAAACTAATGCAAAGCAACGTACTGTGATGTATAGAGGAATGAAACTATGGAATGAATTGCCATCAGACATTACATGCATTGTAACAAGTAAAATGAGGTTTAAAAAATCATTTAAAAAATATTTAATGGAACAATATTAAGTGGATTGTTGATTTGGATGTTATGTA
Associated Phenotype:
Not determined