cacna1sb

Ensembl ID:
ENSDARG00000042552
ZFIN ID:
ZDB-GENE-051227-1
Description:
calcium channel, voltage-dependent, L type, alpha 1S subunit, b [Source:RefSeq peptide;Acc:NP_99989
Human Orthologue:
CACNA1S
Human Description:
calcium channel, voltage-dependent, L type, alpha 1S subunit [Source:HGNC Symbol;Acc:1397]
Mouse Orthologue:
Cacna1s
Mouse Description:
calcium channel, voltage-dependent, L type, alpha 1S subunit Gene [Source:MGI Symbol;Acc:MGI:88294]

Alleles

There are 8 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa12580 Essential Splice Site Available for shipment Available now
sa27213 Nonsense Mutation detected in F1 DNA During 2016
sa38692 Essential Splice Site Mutation detected in F1 DNA During 2016
sa34412 Nonsense Mutation detected in F1 DNA During 2016
sa41219 Essential Splice Site Mutation detected in F1 DNA During 2016
sa1443 Essential Splice Site F2 line generated During 2016
sa34413 Nonsense Mutation detected in F1 DNA During 2016
sa34414 Nonsense Mutation detected in F1 DNA During 2016

Mutation Details

Allele Name:
sa12580
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000062406 Essential Splice Site 74 1847 1 45
Genomic Location:
Chromosome 8 (position 26620969)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AGCTCAGAAACCCTTTCCGGAAGGCTTGCACCAACATTGTGGAATGGAAG[T/A]ATCCTTCGCAATTACGCTTGTTCTGGTTTTTCCAGCAGCTTCGGAGTGTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa27213
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000062406 Nonsense 142 1847 3 45
Genomic Location:
Chromosome 8 (position 26626742)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TCTTAAAGATAATAGCATACGGCCTCTTGTTCCATGAAGGAGCCTATTTA[C/T]GAAATTGTTGGAATATATTGGACTTTGTCATTGTGTTCATGGGGTAAGAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa38692
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000062406 Essential Splice Site 628 1847 12 45
Genomic Location:
Chromosome 8 (position 26633483)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GCGCAGCAACTTCGACAACTTCCCACAGGCCCTCATCAGTGTCTTCCAGG[T/C]ACATCAACCGCTATTTCAAACTACAATCTCATTTATCACTGAGTAGTCAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa34412
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000062406 Nonsense 693 1847 14 45
Genomic Location:
Chromosome 8 (position 26634045)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TGGCCATCGCTGTGGACAATCTTGCCGAAGCTGAGAGTCTGGCAGCCGCA[C/T]AGAAAGAGAGAGCGGAGGAAAGAGCCAGAAAAAAGCTCATGAAGTAAGGC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa41219
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000062406 Essential Splice Site 763 1847 16 45
Genomic Location:
Chromosome 8 (position 26636806)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TCAAATGTGAATGAAGTGAAGGACCCCTTTCCTCCTGCTGACTTTCCAGG[T/C]AAGGCTGAAAGCCTCCGACACAAGGGCTTAAATATCATCAGAGGGCTCTA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa1443
Current Status:
F2 line generated
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000062406 Essential Splice Site 870 1847 19 45
Genomic Location:
Chromosome 8 (position 26640031)
KASP Assay ID:
554-1369.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ACGCAGACATCGTCTTCACAACGGTCTTCACCATTGAGATTGTGCTGAAG[G/A]TAATGCACTTGTCAGCTTTATTTAACCTTCAGATTTGTGATTTGGCTGAC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa34413
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000062406 Nonsense 919 1847 21 45
Genomic Location:
Chromosome 8 (position 26641792)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
ATTGTATTTCAGGTCTAGTACCATCTCAGTAGTGAAGATTCTCAGGGTGT[T/A]GAGGGTACTCAGACCTCTAAGAGCCATCAACAGAGCCAAAGGATTGAAGG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa34414
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000062406 Nonsense 1821 1847 45 45
Genomic Location:
Chromosome 8 (position 26660905)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
ATATTGGCTTGCAGGATATAGAGAGCGTGGCTCAGGGTATTGTCAATGGG[C/T]AGAGCGGCAAGGTAACCAAACGCAAGCGACGTCCTATCCCTGTTCCTCCC
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

(GWAS data comes from http://www.genome.gov/gwastudies/.)

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