Busch Lab

ZMP

CACNA1H (1 of 3)

Ensembl ID:
ENSDARG00000060496
Description:
calcium channel, voltage-dependent, T type, alpha 1H subunit [Source:HGNC Symbol;Acc:1395]
Human Orthologue:
CACNA1H
Human Description:
calcium channel, voltage-dependent, T type, alpha 1H subunit [Source:HGNC Symbol;Acc:1395]
Mouse Orthologue:
Cacna1h
Mouse Description:
calcium channel, voltage-dependent, T type, alpha 1H subunit Gene [Source:MGI Symbol;Acc:MGI:1928842

Alleles

There are 13 alleles of this gene:

Allele Name Consequence Status Availability
sa33265 Nonsense Mutation detected in F1 DNA Not yet available
sa44569 Nonsense Mutation detected in F1 DNA Not yet available
sa20094 Nonsense Available for shipment Available now
sa16069 Essential Splice Site Available for shipment Available now
sa16182 Essential Splice Site Available for shipment Available now
sa33266 Nonsense Available for shipment Available now
sa17053 Nonsense Available for shipment Available now
sa1124 Essential Splice Site F2 line generated Not yet available
sa40132 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa17795 Essential Splice Site Available for shipment Available now
sa10926 Essential Splice Site Available for shipment Available now
sa13577 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa33265
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
A > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000085210 Nonsense 251 2114 6 36
Genomic Location (Zv9):
Chromosome 3 (position 39867281)
Other Location(s):
Assembly Chromosome Position
GRCz10 3 39730641
GRCz11 3 39872499
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGACAGGCAACTACAGCTGTGTGAACTGGAACCAGTATTACAGTGAATGC[A/T]AGCCCGGAGACTTAAACCCGCACAAAGGCGCAGTAAACTTTGATAACATT
Long Flanking Sequence:
CTGAAATTTACATTATTGCTACACTATTGTTTTGTTACAAACTTAAGTTGACCCTGTAATTCTTATTTACTAACTTATCCTTACTTATTTCAACTGAAATCATGACATTTTACAACCTGACCCAACCGTGCCTTGTCTTAAAAATTGGCTGACATTTTAAGAGATGTGCAGATCTTGACATGTCTCCAAGCATGTGATGTTTCAGCTTCAGTCTTTTTCAAGTAAATGTCTTATATTCTACACTGTCTTCAATGTGTTTCCACAGCCAATATAATCTGTCGTATATGAGTCTGTACTATGAGAACGAAGATGGTGAAGACAACCCCTTCATCTGCTCCTCCAGTAAGGACAACGGCATGAAGCGCTGCAGTGCTGTGCCACCCCTTAAAGAGGGTGTTGAGTGCACTTTAAATGCATCTTTTCTGGGACATGTCTACTCTGGCCTGAGCGGGACAGGCAACTACAGCTGTGTGAACTGGAACCAGTATTACAGTGAATGC[A/T]AGCCCGGAGACTTAAACCCGCACAAAGGCGCAGTAAACTTTGATAACATTGGATATGCCTGGATCGCTATATTCCAGGTAAGTTCCTCTTGGAATGATGTTTGTAATCCAGATTTTTTTTTTTTTTTTGGATGCAGTTGAGTGCTCTGGGAATGAAAATGCATTAGTAGGCGTCATAGCTCTGTTCCCTGAAGTCAACGGCCCTAGTTATTCCAAAGATACTGTAGATGAGGCTTTTTACAACTTTTTATTGCTCGATTTTCTTCTTGAAAGGACAGAGTCTTGTTAAGCATGCTCCAGCCACACCAAATAATTGAATCTCCTCTGAGCAAATGTCTGTTTTAGTCATTTCTACCCCTTGCTCAGAAGGAGCCCTGCAAAGTGATGAGATTTTTCGACAGGAAAGTGATATCGCAGTCCGTGGAAATTAGATCAGAAAAGAAAAGCGTCCCGCTGCATATTAACTCATCAGTACTTTCAATCCATCCTCATCAGCAGAGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa44569
Status:
Mutation detected in F1 DNA
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
ENSDART00000085210 Nonsense 538 2114 8 36
Genomic Location (Zv9):
Chromosome 3 (position 39873960)
Other Location(s):
Assembly Chromosome Position
GRCz10 3 39737320
GRCz11 3 39879178
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CATTTGCAACTATTCAGGTGGAGGTTCATTAGGGAAAGAGAGGGGGAAGT[C/A]GGATGCAAATACAGGACATGAGGTGATACAGGACTTTGACAAGCTGCACC
Long Flanking Sequence:
CCGCAAGGTGAAGCGCCGCCTCTCCCGCATCTACAACAGCTGGCAGAGCAAGCGGCGAAAGAAAGTGAACCCCAACACCGGGGCTGGCGGAGGTGCCAATGGTCACAGTAGGCACAGGGGTTACGGACACTGGGTACAGTCCATTCACAGCCTCATCCAGCAGCACCAGCGACAGCACTGTCACCTCAGCAATGGCAGCCCCAGTCCTGTGGCCACTACGGGCTCCAGTGAGGCTCTGGAAATGAGGTCCATCACAGCGGGTCAGCAGCTGACCGTGTCCTCTCAGCCAACCGCCACGCACAATCTTTCTTCCAGCACACAATCAGTGCATAGCATTTATCAAGGTGACTTTCGTGAGGCCCCGCAGGAGCGAACACCCACTAATGTTGCTGTTCCGGCACTCAGCCGACTCAATGGGGGGATGAACTATCCCACAATTTTGCCGTCCCTCATTTGCAACTATTCAGGTGGAGGTTCATTAGGGAAAGAGAGGGGGAAGT[C/A]GGATGCAAATACAGGACATGAGGTGATACAGGACTTTGACAAGCTGCACCAGCAAATTGAAGCACATAGTAAGTTTTTTTTTTTTTAATTGCCGTTGTTTGGCCTTCTCATCAGGTTCAGTAGTCACCTCACACAGCCTGTTTCAGGAAAATGAAATGCTTTCTGAAAAGTGATTGTTAGGCAGCTCTTATGGATGTGACAGTAAATCGATACTTCAAATGTTAAAGTCATTAACGCAATCTTTAAAGGAGTGAGGCAACAGCGAGCGACCACGGCTGTCAGGGCTTTCGAAATTCTACAGCAGCAGTTGATACATCATGTTAGATGGATAGGCTGGAGGCTTAATCTGTCATTGGAGGGAAAAGATCAGTTGGTTGTAAATGATTTAGTCTTTTGAGGTTTCTAGGCCTGGCTGTAGAGTTAGGTCAATCAAACACTATACAGTGTCTTTTTAAACACCCAAAATTACAAGAAACTCTGGAGGAATTGTGAATAGCATT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa20094
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000085210 Nonsense 556 2114 8 36
Genomic Location (Zv9):
Chromosome 3 (position 39874013)
Other Location(s):
Assembly Chromosome Position
GRCz10 3 39737373
GRCz11 3 39879231
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATGCAAATACAGGACATGAGGTGATACAGGACTTTGACAAGCTGCACCAG[C/T]AAATTGAAGCACATAGTAAGTTTTTTTTTTTTTAATTGCCGTTGTTTGGC
Long Flanking Sequence:
GGCGAAAGAAAGTGAACCCCAACACCGGGGCTGGCGGAGGTGCCAATGGTCACAGTAGGCACAGGGGTTACGGACACTGGGTACAGTCCATTCACAGCCTCATCCAGCAGCACCAGCGACAGCACTGTCACCTCAGCAATGGCAGCCCCAGTCCTGTGGCCACTACGGGCTCCAGTGAGGCTCTGGAAATGAGGTCCATCACAGCGGGTCAGCAGCTGACCGTGTCCTCTCAGCCAACCGCCACGCACAATCTTTCTTCCAGCACACAATCAGTGCATAGCATTTATCAAGGTGACTTTCGTGAGGCCCCGCAGGAGCGAACACCCACTAATGTTGCTGTTCCGGCACTCAGCCGACTCAATGGGGGGATGAACTATCCCACAATTTTGCCGTCCCTCATTTGCAACTATTCAGGTGGAGGTTCATTAGGGAAAGAGAGGGGGAAGTCGGATGCAAATACAGGACATGAGGTGATACAGGACTTTGACAAGCTGCACCAG[C/T]AAATTGAAGCACATAGTAAGTTTTTTTTTTTTTAATTGCCGTTGTTTGGCCTTCTCATCAGGTTCAGTAGTCACCTCACACAGCCTGTTTCAGGAAAATGAAATGCTTTCTGAAAAGTGATTGTTAGGCAGCTCTTATGGATGTGACAGTAAATCGATACTTCAAATGTTAAAGTCATTAACGCAATCTTTAAAGGAGTGAGGCAACAGCGAGCGACCACGGCTGTCAGGGCTTTCGAAATTCTACAGCAGCAGTTGATACATCATGTTAGATGGATAGGCTGGAGGCTTAATCTGTCATTGGAGGGAAAAGATCAGTTGGTTGTAAATGATTTAGTCTTTTGAGGTTTCTAGGCCTGGCTGTAGAGTTAGGTCAATCAAACACTATACAGTGTCTTTTTAAACACCCAAAATTACAAGAAACTCTGGAGGAATTGTGAATAGCATTATGACGCAATGACGCTAATCAATCTATGATATGAAAAATTATATCATTGAAAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa16069
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
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Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000085210 Essential Splice Site 690 2114 11 36
ENSDART00000085210 Essential Splice Site 690 2114 11 36
Genomic Location (Zv9):
Chromosome 3 (position 39902235)
Other Location(s):
Assembly Chromosome Position
GRCz10 3 39765595
GRCz11 3 39907453
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGTCTGTGGTCTGCAGAAGGTAATGAGGTGTGGCTGTGTTTCCYTTCACA[G/A]CCCGAGGAGCTGACMAACATCCTGGAGATCAGCAACATCGTCTTCACTAG
Long Flanking Sequence:
GTAATTCTTCACTCTCAAGAGCTGAAGCGCTGTCTGCATCAGCAAATGCAAGAAGACCAATTCTCTGGCCCCGAAACTGCTTATGATGGACAGATTCTACAAGCTCTGTCCGTCTGATTGATCTGCGTTGCTCTGCTCTTAATAAAGGAGCTTATTATGCTTTAGGTTTGCTTTTGCTTATCCAAGCTCAGCAGCAGAGCCGTTTGTGTTGAAGCTGAACAATTGTAATTGCTTGGTAAGTGTGCTGACGGTTTGGCCCAGAGGTAATGCGTTACGTAAACTGTCCATTTATCATCTGAATGTGCTGAATGGTTTTGCGTATCTCTGTGTTTGTGTACTCTCACTCTCGGCTACACGTGATGTTGTGCGAGTAAAGGTGTGTGAAGGTGCCATTATTTGGGTCAGTGATTAAGGTCACTCATATGTTGTCTTCTCAGCAGTGTGCTGGCATGTCTGTGGTCTGCAGAAGGTAATGAGGTGTGGCTGTGTTTCCTTTCACA[G/A]CCCGAGGAGCTGACCAACATCCTGGAGATCAGCAACATCGTCTTCACTAGCATGTTTGTCCTCGAAATGCTCTTCAAACTGCTGGCCTTTGGCATCTTCGGCTATATAAGGAACCCATATAACATCTTTGATGGGGTTATTGTTGTCATAAGGTAAGTTCTATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTAAGTATGTATGTATGTATGTATGTATGTCCGTCTGTCTGTCTGTCTGTCATCTATCTATCTATCTATCTGTCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTGTCTGTCTGTCCGTCCGTCCGTCCGTCCGTCCGTCCGTCCGTCCGTCCGTCCGTCCGTCCGTCCATCCATCCATCCATCCATCCATCCATCTATCTAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa16182
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000085210 Essential Splice Site 690 2114 11 36
ENSDART00000085210 Essential Splice Site 690 2114 11 36
Genomic Location (Zv9):
Chromosome 3 (position 39902235)
Other Location(s):
Assembly Chromosome Position
GRCz10 3 39765595
GRCz11 3 39907453
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGTCTGTGGTCTGCAGAAGGTAATGAGGTGTGGCTGTGTTTCCYTTCACA[G/A]CCCGAGGAGCTGACMAACATCCTGGAGATCAGCAACATCGTCTTCACTAG
Long Flanking Sequence:
GTAATTCTTCACTCTCAAGAGCTGAAGCGCTGTCTGCATCAGCAAATGCAAGAAGACCAATTCTCTGGCCCCGAAACTGCTTATGATGGACAGATTCTACAAGCTCTGTCCGTCTGATTGATCTGCGTTGCTCTGCTCTTAATAAAGGAGCTTATTATGCTTTAGGTTTGCTTTTGCTTATCCAAGCTCAGCAGCAGAGCCGTTTGTGTTGAAGCTGAACAATTGTAATTGCTTGGTAAGTGTGCTGACGGTTTGGCCCAGAGGTAATGCGTTACGTAAACTGTCCATTTATCATCTGAATGTGCTGAATGGTTTTGCGTATCTCTGTGTTTGTGTACTCTCACTCTCGGCTACACGTGATGTTGTGCGAGTAAAGGTGTGTGAAGGTGCCATTATTTGGGTCAGTGATTAAGGTCACTCATATGTTGTCTTCTCAGCAGTGTGCTGGCATGTCTGTGGTCTGCAGAAGGTAATGAGGTGTGGCTGTGTTTCCTTTCACA[G/A]CCCGAGGAGCTGACCAACATCCTGGAGATCAGCAACATCGTCTTCACTAGCATGTTTGTCCTCGAAATGCTCTTCAAACTGCTGGCCTTTGGCATCTTCGGCTATATAAGGAACCCATATAACATCTTTGATGGGGTTATTGTTGTCATAAGGTAAGTTCTATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTAAGTATGTATGTATGTATGTATGTATGTCCGTCTGTCTGTCTGTCTGTCATCTATCTATCTATCTATCTGTCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTGTCTGTCTGTCCGTCCGTCCGTCCGTCCGTCCGTCCGTCCGTCCGTCCGTCCGTCCGTCCGTCCATCCATCCATCCATCCATCCATCCATCTATCTAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa33266
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Mutation:
G > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000085210 Nonsense 810 2114 13 36
Genomic Location (Zv9):
Chromosome 3 (position 39904793)
Other Location(s):
Assembly Chromosome Position
GRCz10 3 39768153
GRCz11 3 39910011
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCTTTTATTTTTTCTTTTGTCTGTAAAGCATACTCGGAATGCATCTGTTC[G/T]GATGCAAATTCAGCCTGAAGATGGAGAATGGAGACACTATTCCGGACAGG
Long Flanking Sequence:
CCATGTGTTTCTTTGTCAGTGTATGGGAGATCATCGGTCATGCGGATGGTGGTCTCTCAGTGCTGAGGACTTTTCGTCTCCTGAGGGTGCTCAAACTGGTGCGCTTCCTCCCTGCCCTGCGCAGACAGCTGCTTGTCCTGATGAAGACCATGGACAATGTGGCAACATTTTGCATGCTACTCATGCTCTTCATCTTCACTTTCAGGTGAAGAACACAACAATAACTCCTTCAATCATAACTGAGCTTGATTTGCAGCATCTCTAACTATAATGACTATAAAACTATACTAAGACAGTAGTAAAAACTATAAGACTATAATTTAGACAGACTATAAGACTATGAGATTATAGTCAAAATTAAAATAATTGCAGTTTGTATTAGATAACGCATGCTGCATTCATTCATTTTTGTTGCACATAATTGTGAGTTTTTTTCAGTTAAATTTAAATGCTTTTATTTTTTCTTTTGTCTGTAAAGCATACTCGGAATGCATCTGTTC[G/T]GATGCAAATTCAGCCTGAAGATGGAGAATGGAGACACTATTCCGGACAGGAAAAACTTTGATTCCCTGCTGTGGGCCATTGTCACTGTGTTTCAGGTCAGAATAGAAACAGTACTGGCTGTACCAGGGTTGTGCTATGTATAGAGCTGTTCTTAGTTGCAATGTATGAACACATGAAACATCAAAAGTAAAGTGTGTATAAATAATTGCTCATTTCAGTAAGGTAACCTTGTATTTTCAGATCTGTTTCAGCAATGATAAAGCCTTGTATTATCAAAATAATGAAACACTTTATTGCCAGAGTTGGTATTGTGGCTTTACAAATGGTCAGAGTATTGCATGTGTCTTTATATTTTAATAACATTTCCCCAAATGCAGTAAGTGCATTGCATTGTTTTCATTAGCGCACAGGCTATAAAGTTTATTGTGCAATGTAGGTGCTTGTCTTTAATGTTCGAATGCATAAAGCTCACATAAAGCTCATGTTTTAAATAATGAGGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa17053
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
Mutation:
A > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000085210 Nonsense 1341 2114 23 36
Genomic Location (Zv9):
Chromosome 3 (position 39919369)
Other Location(s):
Assembly Chromosome Position
GRCz10 3 39782729
GRCz11 3 39924587
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GAAACATCACCAATAAGTCTGACTGTCTTCRGGCAAACCTCAAATGGATC[A/T]GAAGAAAGTACAATTTTGACAACTTGGGACAGGYACTGTTTTCCTCAGAT
Long Flanking Sequence:
GAGGGTGAGTCATTCGATCGGTCATTCAGTCAACAGCAGCCTCTGGTGGGTTTACACAAGAATAGCAGATGCGAAAGGCACTCAGGAGAGAAATTTGAGATCTTAAAAAGCATACACAGTGGTCTCTGGTGGATTTAAAACAAAAACTGCAAAAAAATGTAGTTCCTGGGACATATTTGTCGCTTTCTAGAAATATATATTTAGAGGTACATTTTTAGAATGAATCTGAGTTAAAGAAATGCTCAGCTGTGAGCACTTCATGAACTGATGGAGCATTTAAAAAATGCAGAGCATGGTTTTCAGAGTGGTTTTTAAAGCAATTGCATCTGTCAGCACAGATATTGGGATATTAAATTAGATTTTTGCAATGAGCATGCTATGAACATGTTTGCTTTGATCAATTGCAGCTCTTCAAAGGAAAGTTTTTCCACTGTGAAGGCGGCGATACCAGAAACATCACCAATAAGTCTGACTGTCTTCAGGCAAACCTCAAATGGATC[A/T]GAAGAAAGTACAATTTTGACAACTTGGGACAGGTACTGTTTTCCTCAGATATCATTCATAGATTTTATATTTACATTTAGTCATATAGCAGACGGTTTAGTCCAAAATGATTTACTAATGAGGAAGGCATTAAGCAACTTATCCTTAAGAAGCAATACTCACAAGAAGGGCTACTACTACAAATTGTAGGTTTTGACTTTGTTATAAAATTAAAAGCTAAATGTGGGGGAATGAAAGTATAGAGAGGGGGTGTTTTGACACTGTGAAGAATAATAAAGTGACTGGCTGAATAAAAAAGTGAGGTCATGATGCTCGACCTTCAGAAAAAAAAAATTCTGCAGTAATATGGTCGAAATGATTCCCAGATTGCATATATGAGTCCTGTAATGGCACTGAATGAATGATGGTTCTCTCTTCCGCAGGCTCTCATGTCTCTTTTCGTGCTTTCCTGTAAGGATGGATGGGTCAATATAATGTATGATGGGTTGGATGCTGTTGGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa1124
Status:
F2 line generated
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
ENSDART00000085210 Essential Splice Site 1351 2114 23 36
Genomic Location (Zv9):
Chromosome 3 (position 39919403)
Other Location(s):
Assembly Chromosome Position
GRCz10 3 39782763
GRCz11 3 39924621
KASP Assay ID:
554-1035.1 (used for ordering genotyping assays)
KASP Sequence:
AAACCTCAAATGGATCAGAAGAAAGTACAATTTTGACAACTTGGGACAGG[T/C]ACTGTTTTCCTCAGATATCATTCATAGATTTTATATTTACATTTAGTCAT
Long Flanking Sequence:
AGCAGCCTCTGGTGGGTTTACACAAGAATAGCAGATGCGAAAGGCACTCAGGAGAGAAATTTGAGATCTTAAAAAGCATACACAGTGGTCTCTGGTGGATTTAAAACAAAAACTGCAAAAAAATGTAGTTCCTGGGACATATTTGTCGCTTTCTAGAAATATATATTTAGAGGTACATTTTTAGAATGAATCTGAGTTAAAGAAATGCTCAGCTGTGAGCACTTCATGAACTGATGGAGCATTTAAAAAATGCAGAGCATGGTTTTCAGAGTGGTTTTTAAAGCAATTGCATCTGTCAGCACAGATATTGGGATATTAAATTAGATTTTTGCAATGAGCATGCTATGAACATGTTTGCTTTGATCAATTGCAGCTCTTCAAAGGAAAGTTTTTCCACTGTGAAGGCGGCGATACCAGAAACATCACCAATAAGTCTGACTGTCTTCAGGCAAACCTCAAATGGATCAGAAGAAAGTACAATTTTGACAACTTGGGACAGG[T/C]ACTGTTTTCCTCAGATATCATTCATAGATTTTATATTTACATTTAGTCATATAGCAGACGGTTTAGTCCAAAATGATTTACTAATGAGGAAGGCATTAAGCAACTTATCCTTAAGAAGCAATACTCACAAGAAGGGCTACTACTACAAATTGTAGGTTTTGACTTTGTTATAAAATTAAAAGCTAAATGTGGGGGAATGAAAGTATAGAGAGGGGGTGTTTTGACACTGTGAAGAATAATAAAGTGACTGGCTGAATAAAAAAGTGAGGTCATGATGCTCGACCTTCAGAAAAAAAAAATTCTGCAGTAATATGGTCGAAATGATTCCCAGATTGCATATATGAGTCCTGTAATGGCACTGAATGAATGATGGTTCTCTCTTCCGCAGGCTCTCATGTCTCTTTTCGTGCTTTCCTGTAAGGATGGATGGGTCAATATAATGTATGATGGGTTGGATGCTGTTGGTGTGGACCAGCAGGTTTGCATCTGCTTTGCTCATT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa40132
Status:
Mutation detected in F1 DNA
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
ENSDART00000085210 Essential Splice Site 1533 2114 27 36
Genomic Location (Zv9):
Chromosome 3 (position 39931433)
Other Location(s):
Assembly Chromosome Position
GRCz10 3 39794793
GRCz11 3 39936651
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCTCTGCTTAAACTCGTGGCATTTGGAATACGGAGATTCTTCAAAGACAG[G/A]TATTGGAACCTATATGGATCTTTAAACACCTAATATGGCCAATCTAATGT
Long Flanking Sequence:
TATTTACCTATTTGGTCCCAAAATTTGATTGTGACTTTTTAAGATTATAATTTTGGCCGAGGTTGTGTTTTTTGGTCCAATCATTTCAATCCTGAAAATAACCCTTCTGTTAACATTTTTAAAGCATATTTATGCTTACTAATATAATAGGTTTTCTAAACCCAAGCAAAAATATTAGTGTAACTAAGATGTTTTTGTTTTTCCATAATTTTATTAATTGGTTTTCAGTTGCATAAAGTAGCACTAAGCACTTTTTCATGGCAAAATAATAATAAACATATTATTTATTTTTTATATAATGCAAGAACATTTATACATTTGTGGTTGTGGGTTTACTATTGCATTGCACTGCATTAAAACTGCTGATATAATTGTTTCTATCTTCCACAGTATCTTGACGAGGCACTTAAATACTGTAACTATGTATTTACAATCATCTTCATAATTGAGGCTCTGCTTAAACTCGTGGCATTTGGAATACGGAGATTCTTCAAAGACAG[G/A]TATTGGAACCTATATGGATCTTTAAACACCTAATATGGCCAATCTAATGTGTATATCAATCCACTTGTATCATATTGAATAGATTGCAAACACTATTTTTGTCAGATTTTATTTGATTATGTGACTTTGACTCCTAAATTCTTATTGTACAAGAAACAAAATGTACTATATTTTTAAATAATACCACAACACCCTAAATCAAACAGCCAAATTTGGGCTGATATATCATGTAGCCTAATGCACTTTAGATCAGGGGTGTCGAAACATGGTCCTGACTCCTGCAGGGCCACTGTTCTGTATATTTAGCTCCAACTCTATTTGAATAAACCTGAGCCAGCTAATTGAGCTCTTACAGTGTACAATTGCCCTCCAGGACTGAGTCTAAACACCCCTGCCCTGGATAGTATTTAGTTTATACTGATTATATACATTACATTCTAATTACCTTGTTGTTTTAACTAAGCCGTCCTGTTGTATTTTAGATTCTGATGCAAAAGTCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa17795
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000085210 Essential Splice Site 1601 2114 29 36
Genomic Location (Zv9):
Chromosome 3 (position 39937114)
Other Location(s):
Assembly Chromosome Position
GRCz10 3 39800474
GRCz11 3 39942332
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CTACAGGCATGAGATCCCTACTCGACACCGTAATGCAAGCTTTACCACAG[G/A]TACCTGTTGTCTGTTTTATATTCAKTTATTMAAATGTGTAWATTKGGAAA
Long Flanking Sequence:
TTTTTGTAGAGATATTATATGAGAGGCTTGCTTTGTTTACTAAATAAAGTGGATCCTATTGGATTTGATTTGTGAACATTAAATAAAAGTTAAAAAGCTATTGTTAGTTGTGATACTCCTAAAACTATTCTGCATTAATCCACAGAGTTTTTACTAAATTCGTAGCAGAAATAACAAAAAATTTCCTCAGATTATGTCTGGCCCTACTTACTGTATAAGTCAAGAACATAGCGTTTGCATTAATTAATGTCATAGCATTAATGCTTGACAAATGATAAACTCTTTGCTAATGCTTATTAATTTATTTATAGTATGCAGATATTATAAAGTGTTTTTACTATTACAAATAGTCTGAGATGTGTTTTAATGCCAGAATTGTTGAGTTCAGTAATGACTATATGGACGTGGGATTGTGTGTTCTGACCACAGTGCTGAAGCTGTTAAAGATGGCTACAGGCATGAGATCCCTACTCGACACCGTAATGCAAGCTTTACCACAG[G/A]TACCTGTTGTCTGTTTTATATTCAGTTATTAAAATGTGTATATTTGGAAAAGTTTATATTTCGTCACCTTGGAATCGTAAGGTTCTATCTGCTTTCTAAATGATTTTGAGATGTTGAGCTTCAAAGTTTTTGCATTCCATATAGCAAACAAAATGTGTACCACAGTTCTCTTTCATACATTAACATGACATAGACCCTAAATGTGCTCTAAATCTAAAATTAGAGTAAATTGGAGTAAAAAAAAAACAGTAATGCACATAGAATCTTCTAATTAATCTAATTAATATGTTATCCTGATTTGTTCTCGTGCATACATTAAAAATGCTGATTGGCTCACAGAAAGAGCCTTGTAGAGACTTTGTAGATAAAATGTTTTTTGTTTTTTAAATAAAAAGTCTTAATGTAAACGACTTATAATAAAAAAACATCCCATAACATAAATAAGTTTTTGTCATTTAATATGAATATGTGAATAACTAAATTTTGACAAAAAAGTCAGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa10926
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000085210 Essential Splice Site 1668 2114 31 36
Genomic Location (Zv9):
Chromosome 3 (position 39940488)
Other Location(s):
Assembly Chromosome Position
GRCz10 3 39803848
GRCz11 3 39945706
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
YGACACTTTTCCGAGTATCAACTGGGGACAATTGGAATGGRATAATGAAG[G/A]TAAACTACAACACAGAAGTGCTAACTGTTTTCTATTGGTGCCATTTTAGT
Long Flanking Sequence:
TTGATGCTTGAAGTTTGCTCCTGCTTTGGCAGCGGTTTTGTGAGTTAGCCGCTAGGCTCGCACAGACATATCAATGCTACTTATATCCCTATGAGAGAGGCCTTTGGAATACGAATGACAGGATTATGCTTTCTCTTAAAGGGCAAGCACTGTAATTACTTTCATTAGCATTCAGCTTTAGAATCAATGCTAATTATTGTGTCAGACGTGTCTGGGGAAACGGCTCATTTGCTTCTTCAATGGTATTACAGGGGACTCTGTCAGGTTTTCTCCAATTTTAGAAACACATTCTGTGATGATCAAACTTTTTTGTGTGTTAAGGTGTTTAAAAGTATTTGAGTGTGTGTGTGTGTTTTTTTTACAAATATATTCATCTAGAATGCACAGAGAACAATCCGTGTGAAGGATTAAGTCCACATGCCACGTTTGAGAACTTTGGAATGGCATTTTTGACACTTTTCCGAGTATCAACTGGGGACAATTGGAATGGAATAATGAAG[G/A]TAAACTACAACACAGAAGTGCTAACTGTTTTCTATTGGTGCCATTTTAGTGATTGCTATGTTTCTTGCGTGCAGGACACTCTGCGAGAGTGCCTTCCTTCAGAGACGCAATGCCTCAGCTATCTACCCTGGGTCTCTCCAATCTATTTTGTAACCTTTGTTCTAATGGCTCAGTTTGTGCTGGTTAACGTGGTCGTAGCTGTGTTGATGAAACATCTGGAGGAGAGCAATAAAGAAGCTAAAGAGGATGCAGAAATGGATGCTGCGATCAAGTTGGCAATTTTGAAAGAAACTCGCCGTCTCAGCACCATCTCAGCCAGTGCCACTGCGGGACCAGAAGGCAGGGCAACTTATATCGAGCCACACCCAGATTCACCTGAGCAGGTAGTTTTGCCTGAATGGGGGGGGGGAAGTAATAGCATGTGTTTAAGAGGCATTTTAAAAGGATTGGTTCACCCAAAAATACAAATGATATTATTAATCTTTTTTTCATCAGAACAC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa13577
Status:
Available for shipment
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Availability:
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Mutation:
T > G
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000085210 Nonsense 2107 2114 36 36
Genomic Location (Zv9):
Chromosome 3 (position 39945655)
Other Location(s):
Assembly Chromosome Position
GRCz10 3 39809015
GRCz11 3 39950873
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ATGAAAAAGTTGTCGGATAGCATGTTACTGCGGAGGAGGACACCATCCTA[T/G]GACCTGGCCCTGCAGCGGGACTCTYTGGACTTGCCGGAGAACCAGCTGTC
Long Flanking Sequence:
AGCCCCAGTGGCTCAATGTTTGACTCCGCTGACCCAACCGATGAGGAGGTGCGCCACATCAATAGCACAGCCCGCCTGTGGATCGGGGTTCATGCAGAAGCAAGGAGTCACTCCCTCTCTCCTTACAGCACCTCAGGGACGCTGCTTCCCATCCCCGTGAAAAACTGCAGCAGTGCTGCCAACTTAACCATCAAAGACCCCAAGAAGTGCTTCAGTGTGGACACTGAGGGTTTTCTGGAAAGACCCTACGCTTCTGATGACCATCGCAGGCACTCGATTGAGATTTGCTCCTCAGGAGACGATGGGCTGTTTGGTCAAGAACTCTGTGAAAAGAGGCACGTTCCCACGCGTGGAAAGTCTTTGCACATTCCCCGGAAGACAAAGATGAGCCCTCCCTGCATCTCCATCGAGCCCCCATTTGAAAAGGATGTTTCCCCCTCTCATGCGTCCATGAAAAAGTTGTCGGATAGCATGTTACTGCGGAGGAGGACACCATCCTA[T/G]GACCTGGCCCTGCAGCGGGACTCTCTGGACTTGCCGGAGAACCAGCTGTCAACCCAGCCACTCATCAAAGTAGAGCGACATCCCTCTCACTGTGCCGAGTATCTGTCCCTCCCACACCCCGCCCCAATGAGCGGTCTGGCAGGCGTTTTGTGTGAAAGCACGCAGCCGCCCCCCTTTGATAGCAGATATGAAGAATCCACGGACTTCGGCTCTGTAAACAGGACAGCTCAATGAGGGACGCTGGCTGACGCTAGCCAGATTTTACCGTCCGCACTCAAGGGTGCAGCAACTAGTTGAGCGGGGGATGACGACCTCTTTCTGTAGCCAAAGTTTTCTTTGTTTTTTCTTCAAATGTAATATCATCCTAAAAGCCAGCCAGAAATGGCAACCGATCCTAGTGCGGAACAGCATTTGATCTGACTGTGATTGGGCAAGGTGTTGAACACGGGATATGCAATTTCAGGTTTCCGAATGGAACTCTGGTTCTTATTTTAGTCCCA
Associated Phenotype:
Not determined