ZMP
cacna1bb
Ensembl ID:
ZFIN ID:
Mouse Orthologue:
Cacna1b
Mouse Description:
calcium channel, voltage-dependent, N type, alpha 1B subunit Gene [Source:MGI Symbol;Acc:MGI:88296]
Alleles
There are 11 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa37258 | Splice Site | Available for shipment | Available now |
sa32339 | Nonsense | Available for shipment | Available now |
sa32338 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa37258
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:
Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000089967 | Splice Site | None | 2333 | None | 52 |
ENSDART00000132142 | None | None | 1151 | None | 23 |
The following genes are also affected by this mutation:
Genomic Location (Zv9):
Chromosome 21 (position 12638323)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 14339497 |
GRCz11 | 21 | 14436226 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGGGCCTTTCTGACCCTCTTCACTGTGTCTACAGGAGAGGGCTGGCCACT[G/T]TAAGTTCACTTCATCTATCACACACACACACACACACACACACACACACA
Long Flanking Sequence:
CAAAGTGAATGTGTGTGTGTTTTTGAGACAAAAAAATGTTAAAAGTTAAATTAAATACAGTAGTCAACATCTTAAGTGGATCAAAAACGTTTTTCCGAATTGTCCTAAGGCAAGAATAGGTGTTGTTTAAAGGTTTTAGGACAGCTTTAATGAAAGGTTTTGAACCATTTCAAATGTTGACTACTGTATACCTTATTAGCAGACACTTTTATTCAAAGTTGGGGTAAGTTCTTTTTTTTGGTGAACTGTTCCTCCAAGAAACGTTATCATCTTTAGAATATAAATGATTTAAAATGAAAACTAAGAGAAAAGAGAATGAATCAAAGCAGAATGGTAAAATATTGGTGTGTGTTCATCAGGGGTCAGTTCTTGGAGTACGGCAGTGATGGAGTGGCCATGACGCAGCCGCGCGAGTGGAAGAAGTACGACTTCCATTATGACAACGTCCTGTGGGCCTTTCTGACCCTCTTCACTGTGTCTACAGGAGAGGGCTGGCCACT[G/T]TAAGTTCACTTCATCTATCACACACACACACACACACACACACACACACACACACAAACACACACTCACTCACACATGTGTACTGTGATGACATAAGTATAATGTAGCTTTTCCTACTCTGATGGTTTTCTTCTTTATGAGATCATCTTCTTGCTCTGCTCTCTCTGGTAAAATCAGTATTCCACCCACTGGTTTCTTTCTTACTCAAAACTCTTTTATTCATAGAAAAACATACTTGGTTACGAAAGAGAAAATCAGACGCTGCAACAAGAAAGTCCAGAAAGTTTTTCATATTTAATTCATATCCTTCTTTAACATTCAAAAGCTGCCTCTGGTTCTCTGTGATATCTCTGCATTCCTACTCAAGTTTTATGGGCAAAGACATGCGTTCTAAACCACTGTACAGTGTAAATACACTTTTCCCCTTCATTTTCTATGGTTTTTACTCTGTCAGTCAATCCGTATATATATGTGTGTGTATGTATATATATTTATAGTTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa32339
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 |
---|---|---|---|---|---|
ENSDART00000089967 | Nonsense | 1487 | 2333 | 32 | 52 |
ENSDART00000132142 | None | None | 1151 | None | 23 |
Genomic Location (Zv9):
Chromosome 21 (position 12631375)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 14332549 |
GRCz11 | 21 | 14429278 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATCACTGTGTGTTTGTGCTTTCTGCAGTTCCATGGTGCTCCTAAACCTTA[T/A]GAGGACATGTTGAAGTGGCTGAACATCATCTTCACTGCACTCTTCACACT
Long Flanking Sequence:
AATATAAACCAGCTTCAGTTATTTAAAAAAAAAAAAGGTTAAAAATGGAAATTTATGTTCAGTCATTTATCTAGGATGCTTTTATTTCCCCCATAACTCTCTATGGCCTGGCAGTAATCCAGAGGACTTTCTAATTCATTTGAAATCGAACAAAAAGAGGCATTTGAAATTAAATGAGTGTTTTCAAACATCCAGGCATAATGTCTAGAGCAGCCTAGAGTTCATCAGTCAATGGTTCGCCTGGTAAATTGCCAACAGGAAGTTCCCTTAGCTCCTCTATTTTTATTTCTTCAGTTATAAAACACTGCCAAGGTTGTAGACACACATTGAGAGACTGCAGTGCTCTGATTGAGCTTCAGCAGTCTTCCTTACTGTATGTGAACTGATGTGGACACTATCAATAAGTCATTTCTCATTTTACTGGTGTTCTGAATATTTTAGTGAGCCACTATCACTGTGTGTTTGTGCTTTCTGCAGTTCCATGGTGCTCCTAAACCTTA[T/A]GAGGACATGTTGAAGTGGCTGAACATCATCTTCACTGCACTCTTCACACTGGAGTGTGTTCTCAAGGTCATCGCCTTCGGTCCTCTGGTGAGACTGGACACACTCTCATATTACCTTTATCAATATAGTCAACATTTGATACAGTTACTCTCCATGTGTAGCACAACTAACTGCTGAAAAATGTAAGTTCTTTCAGTTTACAAAAATGGTACTGAACCTGACAGGCAGTGAAGATGTTTCATCATGAACTGATCATGAACTTTGGTTTGCTAGACCAGAGACATTTAAAATTCAGTTATATATATATATAAAAATTCGGAAATTATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAATTTATATATATATACATACATACATACATACATACATACATACATACATACATACATACATACATACATACATACATATATAATTTATATATATATACATAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa32338
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 |
---|---|---|---|---|---|
ENSDART00000089967 | Essential Splice Site | 1837 | 2333 | 42 | 52 |
ENSDART00000132142 | None | None | 1151 | None | 23 |
Genomic Location (Zv9):
Chromosome 21 (position 12603502)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 14304676 |
GRCz11 | 21 | 14401405 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCCAGTTTGTCATCTAAAACAGTAGACCTGCTGGTTACACCTCATAAACG[T/C]AAGCTGTGCATAACATAATGGCAGTTTCAGTTTAAAAAGCAATTAGCATT
Long Flanking Sequence:
CTTTTTGATATGAACGTTTGTTTTCAGATTCAATTTTTTTTTTCTTTCTTATATATACATTTAGGCTTTAGGTCCCTACACAAGACATTAAAACTAAAAAGATAAATATAGATAAATGTTCTGTGCAAAAATCTTACAGGTGACTAAAGCTGGGGTGACTTTTGCAAAGTTCTGTTCATGTCAATTGAATGTCACTTTCTCTACTTATTTTCACTTTGTTTACTATAACCCTGGAGTAAAATGTGGCTAAAGAGTAACATCCATTAACAGCTTGACAAAATGAATCTCACTTTAGGAAATTAAGAGTGGTGAGAGCAACATTTCAAACAACTGCATTTCACAAACTTGCTTTCTTATTGTTGTTTTTTTTTCTTCTTCTTCCTTTTCCCAGGAGTTCTGGCTCAGCGCATTTGTGATGCTGAATTAAGGAAGGAAATCAATAAAATTTGGCCCAGTTTGTCATCTAAAACAGTAGACCTGCTGGTTACACCTCATAAACG[T/C]AAGCTGTGCATAACATAATGGCAGTTTCAGTTTAAAAAGCAATTAGCATTTATATGGAATTTTAATTAAATGCTTATGGGAGTTTTCCCTCTGAAAATAAATTAATGGCATTATACACTTAGTTGTTTGTTTGTTTGTTTTTTTTTTTTTTTTTTTTGTGGCTTCTTGTGAGTTTTTGATGCCACCTAGTGGACATCAGTTTTCCCCTTGCTTATACTGTCTTTTTTAGTTGTTATTATTTTGTGCCGTTTTCCGAGGTCCACTTATGATATCAAGATTATTTTTACATTAGAAATCACAATGTTTAAGATGTAGCAAGCTATTTTATGTCAGTTTTTAAACTAGTTGTCGTATTACAACTTGTTGTTTTGGCTGATTAGCATTGTGTAGTATGCAGCACACTGCCCTATAAAGGCAAAGTGCAGTATCTACGCAGATACTGAAACTGAACATACTGTCTTAAAATTTTAACGCAAGCTTGGTTTTTATGGTGACTGAAA
Associated Phenotype:
Not determined