ZMP
cacna1ab
Ensembl ID:
ZFIN ID:
Human Orthologue:
CACNA1A
Human Description:
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit [Source:HGNC Symbol;Acc:1388]
Mouse Orthologue:
Cacna1a
Mouse Description:
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit Gene [Source:MGI Symbol;Acc:MGI:10948
Alleles
There are 14 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa12516 | Essential Splice Site | Available for shipment | Available now |
sa12560 | Essential Splice Site | Available for shipment | Available now |
sa35120 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa15403 | Essential Splice Site | Available for shipment | Available now |
sa7292 | Splice Site, Nonsense | Mutation detected in F1 DNA | Not yet available |
sa5845 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa10764 | Essential Splice Site | Available for shipment | Available now |
sa35121 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa9062 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa41872 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa41873 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa12516
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 |
---|---|---|---|---|---|
ENSDART00000008139 | Essential Splice Site | 38 | 2101 | 1 | 51 |
ENSDART00000008139 | Essential Splice Site | 38 | 2101 | 1 | 51 |
Genomic Location (Zv9):
Chromosome 11 (position 31781540)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 11 | 30658902 |
GRCz11 | 11 | 30906086 |
KASP Assay ID:
2260-4470.1 (used for ordering genotyping assays)
KASP Sequence:
CGAGCAGTCAGAGTRTTACGGCCGCTAAAACTGGTGTCAGGAATTCCTAG[T/C]AAGTTTTCCATCTGTGTCAGTTTTTTTCTGTCTTTTTTCCCCCAACATGC
Long Flanking Sequence:
ATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATGGATGGATGGATGTAAACTTAGCTAATTAATGCATCAGCTTTAGTTAGCCTTGGATGAACAACCACTCATGCACACACATTCACTCACATTTAAAGATCAGACAATTTGAACAGTGTGTGATGCGAGAACCCAGCAGTGTGTGATCAATTATTTACCTTCAACTGACCTCTTCTCCTGATAGTGTGTTTCTTTGACACATGACATGTTTTCTCATTTTTCCTCAAAAATGAATGATGCATGATTGCAAAAATAACTATTTCCTGGCTTGTTCTTCTGTCCTCCAGTATCCTGTCCTCCGTGGGGTCAGAATTAGACCTGCGGACGCTGCGAGCAGTCAGAGTGTTACGGCCGCTAAAACTGGTGTCAGGAATTCCTAG[T/C]AAGTTTTCCATCTGTGTCAGTTTTTTTCTGTCTTTTTTCCCCCAACATGCATTAATACCATTACTCTCCAGGCCTGCAGGTGGTGCTGAAGTCCATCATGAAGGCCATGATTCCACTGCTGCAAATTGGTGTGCTTTTATTCGTGGCCATTCTTATGTTTGCCATTATTGGCCTGGAGTTCTACATGGGCAAATTCCACACCACCTGCTTCAACACCATCACTGGTGAGCTTTTCTCAAAGAGAGAAGACAAAAAAAACATGTTGTAGTAGTTTTACCTAACCATGAAACTTTATGTTGACCAGGTGAGATGTATGATGAACGGCCATGTGGAGCTCGGACATGTGATGCAAACAATACGCAATGCCAGGGCTACTGGCTTGGGCCCAACTATGGGATCACACAGTTCGACAATGTACTTTTTGCTGTGCTCACTGTATTCCAGTGCATCACAATGGAGGGCTGGACTGATATGCTTTATTATGTAAGACTTAAAGGCAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa12560
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 |
---|---|---|---|---|---|
ENSDART00000008139 | Essential Splice Site | 38 | 2101 | 1 | 51 |
ENSDART00000008139 | Essential Splice Site | 38 | 2101 | 1 | 51 |
Genomic Location (Zv9):
Chromosome 11 (position 31781540)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 11 | 30658902 |
GRCz11 | 11 | 30906086 |
KASP Assay ID:
2260-4470.1 (used for ordering genotyping assays)
KASP Sequence:
CGAGCAGTCAGAGTRTTACGGCCGCTAAAACTGGTGTCAGGAATTCCTAG[T/C]AAGTTTTCCATCTGTGTCAGTTTTTTTCTGTCTTTTTTCCCCCAACATGC
Long Flanking Sequence:
ATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATGGATGGATGGATGTAAACTTAGCTAATTAATGCATCAGCTTTAGTTAGCCTTGGATGAACAACCACTCATGCACACACATTCACTCACATTTAAAGATCAGACAATTTGAACAGTGTGTGATGCGAGAACCCAGCAGTGTGTGATCAATTATTTACCTTCAACTGACCTCTTCTCCTGATAGTGTGTTTCTTTGACACATGACATGTTTTCTCATTTTTCCTCAAAAATGAATGATGCATGATTGCAAAAATAACTATTTCCTGGCTTGTTCTTCTGTCCTCCAGTATCCTGTCCTCCGTGGGGTCAGAATTAGACCTGCGGACGCTGCGAGCAGTCAGAGTGTTACGGCCGCTAAAACTGGTGTCAGGAATTCCTAG[T/C]AAGTTTTCCATCTGTGTCAGTTTTTTTCTGTCTTTTTTCCCCCAACATGCATTAATACCATTACTCTCCAGGCCTGCAGGTGGTGCTGAAGTCCATCATGAAGGCCATGATTCCACTGCTGCAAATTGGTGTGCTTTTATTCGTGGCCATTCTTATGTTTGCCATTATTGGCCTGGAGTTCTACATGGGCAAATTCCACACCACCTGCTTCAACACCATCACTGGTGAGCTTTTCTCAAAGAGAGAAGACAAAAAAAACATGTTGTAGTAGTTTTACCTAACCATGAAACTTTATGTTGACCAGGTGAGATGTATGATGAACGGCCATGTGGAGCTCGGACATGTGATGCAAACAATACGCAATGCCAGGGCTACTGGCTTGGGCCCAACTATGGGATCACACAGTTCGACAATGTACTTTTTGCTGTGCTCACTGTATTCCAGTGCATCACAATGGAGGGCTGGACTGATATGCTTTATTATGTAAGACTTAAAGGCAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa35120
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 |
---|---|---|---|---|---|
ENSDART00000008139 | Nonsense | 206 | 2101 | 5 | 51 |
Genomic Location (Zv9):
Chromosome 11 (position 31783731)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 11 | 30661093 |
GRCz11 | 11 | 30908277 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GAGAGCGTGTAGAGAACAGGAGTGAGTTCCTCAAGCTCAAACGGCAGCAG[C/T]AGATCGAGAGAGAGCTCAACGGTTACCTGGAGTGGATCTGCAAAGCAGGT
Long Flanking Sequence:
AAACCTTAGAGATGGTTGTGCATGAAAATCCCAGTAGATTAGCAGTTTCTGAAATACTCAGATAAGACCGTCTGGTACCAACAACCATACCTCTTTCAAAGTCACTTAAATCACCTTTTTTCCCTATTCTGATGCTCAGTTTGAACTGCAACAAATCGTCTTGATCATGTCTACATGCCTAAATGCAATGAGTTGCAGTCTTGTGAGTGGCTGATTAGAATTTTTTGTTAACAAGCAGTTGGATAGGTGTACCTAATAAAGTGGCCGGTTAGTGTATATATTGTCTGCATAACTAGTATTATTCTAGTTCCCTTTCTATATCTGCATATCCTTCAATTCTATTATGTTTTTCTTCTGTCTGTTGTTCTATCGATCCATCCATACACACACCATCTTAACAAAGTGCTAACTAGCAGCTGTCTGTTTCTCTCAGTGAGTTTGCCAAAGAAAGAGAGCGTGTAGAGAACAGGAGTGAGTTCCTCAAGCTCAAACGGCAGCAG[C/T]AGATCGAGAGAGAGCTCAACGGTTACCTGGAGTGGATCTGCAAAGCAGGTCTGTGCTTTAAACTAATATGGGACGGACATAAATACATAACCTGAAGTATGTGCAGAATCCAACTCTGTTTCTTTTTCCAGAAGAGGTCATACTCGCAGAGGATGACAATGACACCGGTGAGAATATTAATGTTTTTTGCATGCTAAATAAAGCCACCAAATTGAAACATATTACGTCTGAAATGCAGTAAATGCTAAATTTGCTTTGTGCACAGGATCTCGACGAAGACCCACATTAAAGAAAAATAAAGCTGACCTGTTAAATCCACAAGAGGGAGTGGACCACATGGGAGATTCAGTTGGTGGGAATTACTTAATATGTTTCTCTGTTTTTGAAACGCATATTAATAGCTTATATACAGCTGAAGTCAGAATTATTAGCCCTCCTGAATTGTTAGCCATTTCTATCCCCAATTTCTGTCTAATGGAAAGATTTTTCACATAATAGTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa15403
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:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000008139 | Essential Splice Site | 340 | 2101 | 8 | 51 |
Genomic Location (Zv9):
Chromosome 11 (position 31785271)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 11 | 30662633 |
GRCz11 | 11 | 30909817 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GTGGCTGYAGTACACTACGATCAGCCTGAGCTACTGTCAGACTTCCTCTG[T/A]AAGTTCTGAYTCTTACTGAGTTGTTTGTTTTTACTTGCATGTTCAAAAAT
Long Flanking Sequence:
TTAAGGCAGCTAATATTATTGACTTTAAAATGGTTTTAAAAAAATAAAAAACTGCTTTTGTTGTATCCGAAATAAAACAATTAAGACTTTCTTCAGAAGAAAAAATATTATCAGACATACTGTAAAAACTTCCTTGCTCTGTTAAACATAATTTAGGAAATATTTGAAAAAGAAAATACACTTCACAGGAGGGCTAATCATTGTGACTTCAGCTGTATATATAATATCATATAGTGTTAATGCTAGGGTAGGAGATTTGAATGGTGCCTCACAATGTTATGCTATTTATTCTCAGGCTCACCTTTTGCTCGTGGAAGCATGAGCGGGAAGGGTGATGAAACCCCATTTAGCAAGAAAGAGCGACGTCTTCGCTTCCTTATTCGAAAGATGGTAAAGACTCAGGCGTTTTACTGGACCGTCATTAGCCTGGTTGCACTCAACACACTGTGTGTGGCTGTAGTACACTACGATCAGCCTGAGCTACTGTCAGACTTCCTCTG[T/A]AAGTTCTGATTCTTACTGAGTTGTTTGTTTTTACTTGCATGTTCAAAAATGTCATACAGATGGAATCAGCATAAAACACATGAAACACTGCTGTTCTGATGAAATGTGTCAGTGTCAGGACTCGCAGGGGTCATAATATCTACATCAGAAGTCAACTGTAGAACTTAAGACCATGGTTGCAAATTAATAGTATTTTGTGGAAAAATTTACACCAGCAAGAACAAGATTAAGGAAAATTTGAAGAAAATGTTTCAATAATTATCTTATCTTTGGAAAGAGGCTTCATCTTCTTCTTCTGAAACAATTTTTAAAGTCTATTTCCTTCTAAGCCTTTTAAGCTATATCCTTCAAACTTTCATCATAGCTTCATACTGGTCTGATTTGGGTTGCTTTTAACTTTTCCAACTGATCTAACTTTCAGATTTCTGATAAACGACCCGGAAAATTCCTGTTGACTCATCTCATTGGACCACACTTGGGTCAAACTTTGTACAGACTTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa7292
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:
Splice Site, Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000008139 | Splice Site, Nonsense | 775 | 2101 | 19 | 51 |
Genomic Location (Zv9):
Chromosome 11 (position 31801777)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 11 | 30679139 |
GRCz11 | 11 | 30926323 |
KASP Assay ID:
554-5368.1 (used for ordering genotyping assays)
KASP Sequence:
GYAATAAGAAGTCAGTGTTGCTTTGTTTTTTCTTTATTTTAACCCTTTCA[C/T]GTACAAGTTCTAAATCTTCAGCTGACCCCCCACCCCTGTGAGTTTTTTTT
Long Flanking Sequence:
TGAAGACCCACTTGGACCGTCCACTAGTTGTCAATCCTCAGGAGAACCGCAACAACAACACCAACAAGCCCCGACCCGATGACCCAAACCCCCAGGAGCGAAGCGAAGAACACCCGTCCAGATCCCATCACCATCACAGCCACCATCACCACCACCACCACCACCACACTCACCACTCCAGCCGCCAGTCTCTGCACCTCCCAGAGCTGGCCGAGACCGGTTTTGAATGTGATGTGGAGGGCGCAGGTGAGCACAGGCGACCCCGACACCACCAGCACAGGCGGAGGGATGAAGATGGAGGAGAGAGAGGAAGGAAACACAGAGATCATCACAGCAGAGGAGAGACGGCTGGAGGAGATGCAGAGGACGGACAGGAGAAGCGGCAGAGGAGACATCGACATGCTAACCATGGGGATGGAGACGGGAGAAGGGAGAGGAGTCGACTGCATCGCAATAAGAAGTCAGTGTTGCTTTGTTTTTTCTTTATTTTAACCCTTTCA[C/T]GTACAAGTTCTAAATCTTCAGCTGACCCCCCACCCCTGTGAGTTTTTTTTACGGTGAATATTATTTAGATCTCTTCTCTTTAAAGTTCTCATAGGGGCACATCAAGATTTATGCATAGATTGTTTTTGTCTCTATTTTTCTAACGTCAGAATTATAGTGCTCCATATATATAAGTAAACCCCTTACAAATCTTTTTAAATTCATATTTTTAATAGGAAGCTATACAAAATTATATTTGTGCATATACATTAGATTAGTAAATACTGAAGCCAAATCTGGAGCTTTTCTAACAAAATAACTTGCGATAACTGTCCAAAAACTAGTACACCCAAATGTATATGTATAGAAAAATATTAAACACCATTTAAAAAAAAAGAGGAAAATTCAGCAAAAAATATGAAAAATTTTGTTGAATATCTTTGATGACTAAAATATAATTTCAATAAATTTGAAAACAAAATGTTTTGTTTAAATGCACCAAAATACATTGCCTATATTCA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa5845
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:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000008139 | Essential Splice Site | 962 | 2101 | 22 | 51 |
Genomic Location (Zv9):
Chromosome 11 (position 31806410)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 11 | 30683772 |
GRCz11 | 11 | 30930956 |
KASP Assay ID:
554-3714.1 (used for ordering genotyping assays)
KASP Sequence:
CGCGTTAGCAGCAGAAGATCCCGTCTCACAGGATTCAGAGAGAAACAAAG[T/A]GAGCAAAAAGATTTTAAATATATGTTTACTGTCGTAAYTAATATTTATGC
Long Flanking Sequence:
ATTTAATGCTGTTCGTATCATATGGAATTGAATTAACAGTTAACAGTTTCAACACCTGACAGTTCAAAACTAGACATTGGCTTGTTAAAAACCAATATGTAATTGTGTTTAAAGCCTGTTATTGAGCATTCCCTTTTTTCCTACATTGTTCAGTGAACAAGAATGCCAACACAGAGCCAGCTAAAGAAGGGGAGAAGAAAGAGGAGGAAGAAGACGATGGTGGCGATGAAGAAGGCCACAAGCGCATTCCACCTTTTAGTTCTTGTTTCATCCTATCCACAACCAACCCGTAAGAGTGTCCTTGTGTGTTTGTTTGTGAGAGTTAGTGCCAAGCAAATGTCATTCATCTCAACCGGTGTGTGTTTTCAGCTTCCGGAGATGCTGTCACTACATCCTCACTCTACGTTATTTCGAGATGTGTATTCTGTCCGTTATCGCTATGAGCAGCATCGCGTTAGCAGCAGAAGATCCCGTCTCACAGGATTCAGAGAGAAACAAAG[T/A]GAGCAAAAAGATTTTAAATATATGTTTACTGTCGTAACTAATATTTATGCAAGTATTTTGTTGACCAATAATAGATACATACTGTAGAAATGCAGGGTTTCTCACAATTCTGTCATGTTGTCCCAACACAAATTAAGTTAACAAATGTAAGTGTATTGAACATAAAACAATAAAGTTGTCCAGTGCATATAGTTTATAGATCCATAATTGTATACTGTAATTCAATAATAGTAACATGTGACCCTGTCAAAATGTATATAATCGCCACAGAGTACCATCTGAATGGTTTCATGTTAAATATCATGCGAATGTGCGCATCTGGTGTGCAATACTTTGAGCGCACCGTGTTGCGGCGCCGAGAGTTTGACCTGCTTCACAGTTTTATCACAAGTCTGAAAGCAAGTCTAAAATGAATCTAATTTTGTGTTTTAGGAAGAGGGGAGTGTCTAGGAAAAGGCGTAGAAAACAGGCATGACTAGATTAGTTGAAGATCTTGTTTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa10764
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:
A > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000008139 | Essential Splice Site | 983 | 2101 | 24 | 51 |
Genomic Location (Zv9):
Chromosome 11 (position 31808013)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 11 | 30685375 |
GRCz11 | 11 | 30932559 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TTTYTGTGTGTGGTTTCGCCTCTTTGCTTTATTCCTCTGCTTTGTGTTTC[A/G]GATGGTGGTGTTAGGCTTGATTTTGCACGAGGGCTCATATTTTCGTGAYC
Long Flanking Sequence:
GCCAAATATTATGCTATCACTACAAACCATCAATCAATTAAATTTATTTATTTATTTATGTATTTCCAAATTGACACATATAACTGGTTTTGTGGCACAGGGTCACATTTACGTTTATGTTCATTTTTCCAAATCAAATGATATTTTGAGGGAAATGTCTTAGACAAGTCACTTATTAGTTCAGACAAAAACATTTTTAAATAAATAATTATATAAATAAATAAATAAATAAATGCCAATAGTTTCAACTACTTAGCCTCAAATCTCAGGTTAAGTGGATGTCGTGTGATTTAATCTCAAATAGACTTTGCATTTTATAGAACACATTTGTAATCAATTTTTTTCCTGTTATCCAGGTTTTGCGTTATTTTGACTACGTCTTTACTGGAGTGTTCACCTTTGAGATGCTTATCAAGGTAAATCCTTGGTCAAATGACTTCCGTGATTGAGTTTCTGTGTGTGGTTTCGCCTCTTTGCTTTATTCCTCTGCTTTGTGTTTC[A/G]GATGGTGGTGTTAGGCTTGATTTTGCACGAGGGCTCATATTTTCGTGACCTGTGGAACTTTCTGGACTTTGTAGTGGTTAGTGGTGCCCTGGTAGCCTTTGCCTTCACGTAAGTGCCCTTTTACCCCCTGCGTCTCCTGCCGCACAGTGCCTGCCTGCTGCCCCTTATCTTCTCCTCTGCCACCCTGGAGCCTTGTCAATACTCTCTCTTCTGGTCTCTTTTTCTTCTCCTGTCAGCACTGTTTTGCTCTTTTCAGCTTTCTATCTCTGTTATTTATTTTTTTGTCACTTTGCTTTCTGTCTCACTCAATCAGTCACACAAATGAAGGCCTTTCTCTCTTTCCACACACTCAAGCGCACCCACTATCTGTCCAGACCAACCTGTCTGTCTCTCTTTTCTCTCTGGCCAATCAGATCCCCAGCTTTTAAATTGTTCACTCCTCTGTTTCTTTGTCATCCAACTGCTGCCATTAGCCTGTGTTTGTCTTTAGTCTCACATTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa35121
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 |
---|---|---|---|---|---|
ENSDART00000008139 | Nonsense | 1131 | 2101 | 27 | 51 |
Genomic Location (Zv9):
Chromosome 11 (position 31822427)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 11 | 30699789 |
GRCz11 | 11 | 30946973 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AACGAGGTCAAATCTCAGAAGAGGGAGTGGAAGAAGTACGATTTCCACTA[C/A]GACAATGTGCTTTGGGCCCTGCTTACTCTCTTTACTGTGTCCACCGGAGA
Long Flanking Sequence:
TTTTAAGAAATAATATGTCAAAATTAAGTTGTTTTTTTATTAAAACAAGCAAAATAATGTACCAGTTGGGTAAGAAAAATTATCTTAATTCAAAGTGAAAACAAAACCCTGCTGGCAGATTAACTTGCTTGTTTTAAGAAAAAACTCACTTTATTTTGTCATATTATTTTTGAAAACAAGATAATATTTTTGCGTGTCTAGAAAATGCTTTTTGATTTAAGAATTTTTAGATATTTGGACTAAAAACTATACCAAAACTCTAAGCAGGAAAAGCATTTTAGCAGCGTATATTGTTTATCTTTTTTTATTCTTTAATATAGAACAACAATAGTTGTTAAACCTTTATAATTATTATCCTCAGTGTGAACAGCCTTTATCCTCACCCGTTCTTAAGAAAATGTGTATGTGCATTTCTGATTCAGGGGCGAATATTTGGTGTACGAGCGCGATAACGAGGTCAAATCTCAGAAGAGGGAGTGGAAGAAGTACGATTTCCACTA[C/A]GACAATGTGCTTTGGGCCCTGCTTACTCTCTTTACTGTGTCCACCGGAGAGGGATGGCCAGAGTGAGTTAACATGCATTCACTTATCTCCTGTTATCTCTCCTTTTGTGTCATCGCCTCTTATTTGGTCCTTTCTTTCAGTGTGTTGAAGCACTCTGTGGACTCCACTTACGAGAATCGGGGCCCGAGCCCGGGATACAGGATGGAAATGTCCATCTTTTACGTGGTGTACTTCGTTGTCTTCCCCTTTTTCTTCGTAAACATATTTGTAGCTCTCATCATCATCACCTTCCAAGAGCAAGGAGACAAGATGATGGAGGACTACAGCCTCGAAAAAAATGAGGTACTTACTACTTTGTTCACATGAGTCATTTAAGGTCCTATTTAACACCGGCTAAAATGTAATTTGCTTGTAATGATAGCTTATGTACCAAAACAATGTGATATATTTACTACAAAGACTGTATTTTAGGATTACAGCGCAGCCCCAATAATTTATAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa9062
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 |
---|---|---|---|---|---|
ENSDART00000008139 | Nonsense | 1246 | 2101 | 29 | 51 |
Genomic Location (Zv9):
Chromosome 11 (position 31825675)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 11 | 30703037 |
GRCz11 | 11 | 30950221 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CCAAACCTCTAACGCGCCACATGCCTCAGAACAAGCAAAGCTTTCAGTAC[C/T]GAATGTGGCAGTTTGTGGTGTCGCCTCCGTTTGAGTACAGTATCATGTCT
Long Flanking Sequence:
TTGGATTAAAAAAAAACACATATATATGGTTGAGAGAGACAGTTATTGAATAAATAATACAAATTAAAAACACACAGTTTTATATAATAATGATTAAAATAAGCAGGATTTTATGATAACCACTATATAAATAAATATAAATGCATATTTAGCAACAATGAGGAAAAAACTAAACCATTCAAAAGCTAAGACTTTTCATATTTGTGTGGATTATACCTAGAAAATTCCTATGTATGTTTGTTTGATTATTTTGCCACATGCTAATATATGAAAAAGCTCTGAGCATTAGTCGCAAATTCAAGCATGATGTCTACTTTAGAGAGAAGGTTTCACTTTTCACTTCAATTTCCAGAGCAACAAACATGCAATGTGATACGTAAGATGCTTTTGTTCACTGTTTTCCCTTGTTCTGTTTCTTCTAGAGAGCCTGTATTGATTTTGCTATAAATGCCAAACCTCTAACGCGCCACATGCCTCAGAACAAGCAAAGCTTTCAGTAC[C/T]GAATGTGGCAGTTTGTGGTGTCGCCTCCGTTTGAGTACAGTATCATGTCTCTCATTGCGCTCAACACCATCATCCTTATGATGAAGGTACAAGATTTTTTCCACCCAACATTAGTAAACTGTAAATTAACTAACAGTTGGCTATAGTTTTTGATTCATGGGTTTTAAATTAGTTAATGCTTTTGAATAGCAATACTGGAACTTTATCTCTGCTCAGACTATTTTGATAGTTTCAAGCTCCAATTGTCTTTTACTGACAATTTTAATAGTTTGAAACAATAACTTGTCTGGGATATTTATTTCAATTCCAGTACTAAAATGAATGAAGTAGCTGTAATTTTTTGAATATGGCAGTTGGTGAGAATATTTTTTTAGTTTTTTTAGTTGTTGATGTATTCTTTTCCACCAAATATTGATTTCTTAACTTTTTTAAGTTACGACAGTGATATTTGTCGTCTAAAATACATAAACATGTCTGAAAACTGAAAACATGGCACTTTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa41872
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 |
---|---|---|---|---|---|
ENSDART00000008139 | Nonsense | 1282 | 2101 | 30 | 51 |
Genomic Location (Zv9):
Chromosome 11 (position 31826477)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 11 | 30703839 |
GRCz11 | 11 | 30951023 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTTATTTTTTTAACTGTGTGTTTTCAGTATAATGGGGCTTCCGATGCATA[T/A]GACAAAGTCCTGAAGAACCTGAATATAGTGTTCACCACATTCTTCTTCAT
Long Flanking Sequence:
CAATTCCAGTACTAAAATGAATGAAGTAGCTGTAATTTTTTGAATATGGCAGTTGGTGAGAATATTTTTTTAGTTTTTTTAGTTGTTGATGTATTCTTTTCCACCAAATATTGATTTCTTAACTTTTTTAAGTTACGACAGTGATATTTGTCGTCTAAAATACATAAACATGTCTGAAAACTGAAAACATGGCACTTTTTTATATTTTATAAAATAAATGCTCTGAAATAAAACATTTTAAATTTTGAATATGGAAAAAAACGTTCTCTGTTGTTAATTAAACAAAACAAAAATGTGATTTACTCTAGCATAAAAAGCTGCTCAGATCAGAGCATAACACAACTAGAAAATTCGTAATACAATTTAAATGTTTAAATAAACAAAAAGTCACCCATGAATCACAAGATACAGTCATACAGATATTTTTTGCACTAAAGCTTTTGTCATGTTCTTATTTTTTTAACTGTGTGTTTTCAGTATAATGGGGCTTCCGATGCATA[T/A]GACAAAGTCCTGAAGAACCTGAATATAGTGTTCACCACATTCTTCTTCATGGAGAGTATTCTGAAAATCATTGCCTTTGGTGTCAGAGTAAGTGTCATACAATTTTTTTTTTTTTTAACACTGTCTTTATCCGTTTTTAGGAACTTGTACTAAAGAAAAGAAAAACAAAACATACAAAATTATTTAAATTAAATACATTTAAAATAAAATAATTATAATTACAGGTATATAAATAAATAAATAAATAAATGCATGTACATCCACATAAAAATAAAGGTGTCAAAAAAGTCTATTATTAGCAGGTGATACAAGATACAAGTTATTTGGACAAAAGATTTGTATCAGCTTCGTATCAATTCCATATTTAGAAAAGATTTCCATTCTCACAATGAGTTTCTGAGTTTTCTTAGCCTTTCAACCGAGTTCGTTCTTCCAATGTAATCTGGCAGCATGTTCAGTGCTGCGAATACATTTTAAAAGCCGATCTTGCTTATTTAAAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa41873
Status:
Mutation detected in F1 DNA
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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 |
---|---|---|---|---|---|
ENSDART00000008139 | Nonsense | 1897 | 2101 | 47 | 51 |
Genomic Location (Zv9):
Chromosome 11 (position 31897105)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 11 | 30774467 |
GRCz11 | 11 | 31021651 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTACACAGTCGGGTGACCTCCCACCTAAAGAAAGGGAACGAGAACGGGGT[C/T]GAGCAAAAGACCGTCGCCACCACCACCACCATCATCACCACCACGGCTCG
Long Flanking Sequence:
GCAATATACAGAGCTGATGCGGTACCAGCCGTGTTCAATCATAAGCATGTGATCCTCTCTAAATTAATTTATAAATAAACCGCACTTATATGTCGTTTCTGACTTTATAATGCAAAATTGCAAGAGAAAATAATTCGATTTCTAAGAACTGCATCATTTCTGTGTTCCAAATTACAAATGCAGCCTGAATTGCTAGTAAGCCTATCAACTTGCGGTTTTTGTCTATTCTATATACGCTTGCAGTTTTCCAGCAATTCTTATGTTTTTCACACAAATCTGAGCACAATTGAGAATATTAGAGCTGTATTGGTTATACTGCTATTCAGAGTTTCATCTCACAATTCTGTGTTTATAATATTTGAGGTTTTCTCTTTTCAGTTTATATCTCATAACTTGCTGTGATAACTCATAACTTGGTCTTGTTAGGTCTGGGTACAGATCTTAGCACCACTACACAGTCGGGTGACCTCCCACCTAAAGAAAGGGAACGAGAACGGGGT[C/T]GAGCAAAAGACCGTCGCCACCACCACCACCATCATCACCACCACGGCTCGGTGGATAAAGATCGGTACAGTCACGAGCGCGACTACCATCGTCATCCTCAAGACAGATCAGATCGCCAATGGTCCCGCTCTCCGAGTGAGGGCAGAGGGCACAGACAGGTGGGACACACACTCACTGAAGTACACACAAATTAAACATTCATCTTTAGATTAAACACACACTACTGCTTAAAAGGGGTCATGTTAAATCTTTTTCTTTCAATAATCTTCGCTAAACCAAAAACACCTAAACCCAAAAGTTTTTTTGCTGCAGATCCTACTTGAAGTTGTTATGAATACATTTTTTTCTCAGATATAAAATAAATAACAGCACATATGAGTTCCAGGTTTGCTCTCAGATCTACTGTAGTAGTAGCCTGCTCTCTTTGCACATTTTAAGCCCAATCCTAAATCTATTTTATACCCCCTACCCCTCCGCCTACCCTCACCCCTTCGCCTTTC
Associated Phenotype:
Not determined