ZMP
cacnb4b
Ensembl ID:
Description:
calcium channel, voltage-dependent, beta 4b subunit isoform 1 [Source:RefSeq peptide;Acc:NP_0010354
Human Orthologue:
CACNB4
Human Description:
calcium channel, voltage-dependent, beta 4 subunit [Source:HGNC Symbol;Acc:1404]
Mouse Orthologue:
Cacnb4
Mouse Description:
calcium channel, voltage-dependent, beta 4 subunit Gene [Source:MGI Symbol;Acc:MGI:103301]
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa7033 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa20670 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa7033
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 |
|---|---|---|---|---|---|
| ENSDART00000089564 | Nonsense | 140 | 523 | 5 | 14 |
| ENSDART00000089577 | Nonsense | 106 | 489 | 4 | 13 |
| ENSDART00000122023 | Nonsense | 140 | 184 | 5 | 13 |
| ENSDART00000126438 | Nonsense | 106 | 150 | 4 | 5 |
Genomic Location (Zv9):
Chromosome 6 (position 14032100)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 6 | 13992062 |
| GRCz11 | 6 | 14121499 |
KASP Assay ID:
554-4445.1 (used for ordering genotyping assays)
KASP Sequence:
GGCTAAAGTTTTATCCTTTYTTCTCCRTATGCAGAAGTTTAATAATGACT[G/A]GTGGAYTGGGAGGCTGGTAAAAGAAGGCTGYGAGATTGGCTTTATCCCCA
Long Flanking Sequence:
TATTTCTAAATTGTCAAAAGTGGCTTTAAAGACAAAAAAAAATAGTAGAAATAAATCAAAGTAACAGTGAAGTTAAATATATCATCAAGCAGTTAAGCTTCATGGCACCAGTGCAATAAATTAAAAGTGATGAATACATTTTAAAGGAGACTATTAGACATATAGGGTTGCATATGTTGTGCATTAGCTTACCTAAATTCAAAAACATTGACTTTCAGGCCAAAGCGGTGGCCTTCGCCGTGAAGACAAATGTCAGCTACTGTGGTGCGCTGGATGAAGATGTGCCTGTGCCAGGAACCGCCATCTCATTCGATGCGAAAGACTTCCTGCACATCAAAGAGGTGAAAAACTTACTACTGACTCAGATTCACTAATGCCTTCTTCAAATATAGATAAACTCTAGCCAAAATTCATTACTTAAGCGGCTATCGTTGGTCAAACGCTTTCAGGGGCTAAAGTTTTATCCTTTCTTCTCCATATGCAGAAGTTTAATAATGACT[G/A]GTGGATTGGGAGGCTGGTAAAAGAAGGCTGTGAGATTGGCTTTATCCCCAGTCCCCTGAAGCTGGAGAATATCAGAGCACAGCTGGAACAGAAGAAAAGCAGAGTACAAGGGTAAGCAGATAGAGATCATACTTAACTAGCTGATGGAGCATTTGATTTTCCGCAACCTCTTGGTTCTTGATGTTTTTTCCAGTGATACTTTTTTAAAGGTGCCATAGAATGCATTGATACAGTATGTTAGATTGTTCTCTGATATCTAAATGAAGTTGTATGTGGCTTAAGTAAGTTTAAATATATCCAGAAGCAGTTTTAGAGGCCGTTCACATATTACGTCTTTTGAGCATGCAAGTTCATTACGTCCATTGGTAACTTGTGCACAAATAGGAAGAAACGTGTTGCATTCACGTTTTCCAGACACATTTAGTTAACACAATCTCAACTTCTCAGAATGCCACAAGCTCACCACAACAAACTAATCAGCGTAATTTGTTTTAAATATA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa20670
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 |
|---|---|---|---|---|---|
| ENSDART00000089564 | Nonsense | 226 | 523 | 8 | 14 |
| ENSDART00000089577 | Nonsense | 192 | 489 | 7 | 13 |
| ENSDART00000122023 | None | None | 184 | 7 | 13 |
| ENSDART00000126438 | None | None | 150 | None | 5 |
Genomic Location (Zv9):
Chromosome 6 (position 14015612)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 6 | 13975574 |
| GRCz11 | 6 | 14105011 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTGCCTTCCATGAGGCCTGTGGTTCTGGTTGGTCCATCCCTGAAAGGATA[T/A]GAGGTATGTTGAGACCTATCATCGTTAGACTTGGGTACTTGTTGTTGACT
Long Flanking Sequence:
TTTGTTTGTTAACAGAATTGTTGAATGCTAAAATAAGAAACATCCTGGATCTGTTTCTTTGCTCCTCTTTATTTATTATTTATGTATATTAGAAGTATCGCATCGAGTTTTGGTAATGGTAGATACTTAAAATCAATTGACTCGGACTCAAGGGCAAAAAAAAAAACATGATCGGGACATCCCTACATATAATGCATACATCTCAATTTTCAAGAATTGACACTTATGACTGGCTTTGTGGTCCAAGGTCATATTAGGCAAAAAATGTATAGTATTCTGATTGATGTAACTGATTAAATGCAAGTATTGGGCATGAAACAAAACACAATTACAGTTAATGAAGTAGCAACCAATTCATAGAGAAGTTAATTTCTGCCCCTGCTGTATGCATATACAGTCATTTACCTATGATCTCATCTGCAGACTGAACATGTGGCTCCCTATGATGTTGTGCCTTCCATGAGGCCTGTGGTTCTGGTTGGTCCATCCCTGAAAGGATA[T/A]GAGGTATGTTGAGACCTATCATCGTTAGACTTGGGTACTTGTTGTTGACTGAAAGAAAATGCTTAAAAAAATCCATCAAGAGAGTTTTACAGGTGAATCAGTGAATTAATCATCAAATAACATTGAACAGGAAATTTCTCCGTCAAGGTCTTGGAGCTGGTGTTCTCCGTTCATGACTGTCCGTGTGTGCGCATTTTGGGTTATTGATACCAGCAAAATATAATATCTATTCCAGTCTCTCCATCTCTTCACGCAGAGAAAACAAAAACATACTCCTCCTCTTCGCCGATCCGTTGCCATGGCAACAACCTTCCGGGGTCCAGGAGACGTCAGTGCTAGAAAGTAGAGCACGGTTTCAAATTAGAAAGAGACAGAAAAGGGAGAGAATAACAGGGATGGTGATGGAGAGAAAGAAAGAAGGAATGCGAGAGACAGCAGGCGAGACGCTGAAGTAGAGAAAGTCTACAAGGAAAAGAAGCTCTTTGCGATTTTTAAGCCGT
Associated Phenotype:
Not determined