ZMP

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
sa12580	Essential Splice Site	Available for shipment	Available now
sa34414	Nonsense	Available for shipment	Available now

Mutation Details

Allele Name:

sa12580

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:

T > A

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000062406	Essential Splice Site	74	1847	1	45

Genomic Location (Zv9):

Chromosome 8 (position 26620969)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	8	25748887
GRCz11	8	25768026

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

AGCTCAGAAACCCTTTCCGGAAGGCTTGCACCAACATTGTGGAATGGAAG[T/A]ATCCTTCGCAATTACGCTTGTTCTGGTTTTTCCAGCAGCTTCGGAGTGTG

Long Flanking Sequence:

ATTTAACCCTCAGTAGAGGCCAGCTGCGTCTAAATGCTCCCTGCCCCTCAGATGCCTCCTTGTCTGGTGTAGGTTTGCACAGGGGCCAAGAAGTTTGACTGTGCCTTCCACAGAGAGGGTGAGATAAGGGGTGGATGAAGCTTAGGACCAGACTGAAGATCTGACCTGGATTTAAGGAGGCCAAAGATTTGCTGAATACACTTTTTGGCCTAAAAAGAAAGCAATCATTCAGTTCTTTTTTTATTGGAATTTGGACAAATACATTTGGGAGATTGAGAATGGAGTCAGGCGGTGGTGGTGGTGGTGGAGGTCCTGGGGGTGGTGGAGTGGCAGGCTTGGCCTCGTTCATCATGAACGAAGAAGAACTGAAGAGAAAACAAAGGGAGAAGCTGAAGAAACTGCTGGCCACCGGAGGAAACCCTCGACCTCCACGTACATTGTTCTTCTTCAAGCTCAGAAACCCTTTCCGGAAGGCTTGCACCAACATTGTGGAATGGAAG[T/A]ATCCTTCGCAATTACGCTTGTTCTGGTTTTTCCAGCAGCTTCGGAGTGTGTTTTGGTGTTCATTGGTTAGGGTATTGAATGGTACAGTATGCTGAGATGGGCATGTTTTAGAAAGGCATCCGAGAGCTGTTTTCGCAAGCCAGAAAAAGCACACAAGCACGGCTCCCTAACCATGATTGATCTGTCAAGTGAGGACCATGAAATCGCCACGTTTCTTTTGTAATACCCAGGTTTAGTGTCTCTCAAGGTGCTGAAATTTGTGTCACAGTTGTGCACCTAAGGTGTTAAGCTTTTGTTATGAATCACACTTGCCATGGTCAATTGCAAGCTGTTAGATCAGGTCTTTAGGTGACTATTTACAGCTGGTCAGCAAATAAGACTGGTGTTAATTGTCACAATTTTCACTTTTTATTGTTATAACATGGCTTTATACGTTTTTTAGATTGATGGTTTTGTTTATGCACAAAAGGTATTTGTTTAAATGCTTCAAACAGCTAGTT

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa34414

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
ENSDART00000062406	Nonsense	1821	1847	45	45

Genomic Location (Zv9):

Chromosome 8 (position 26660905)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	8	25788823
GRCz11	8	25807962

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

ATATTGGCTTGCAGGATATAGAGAGCGTGGCTCAGGGTATTGTCAATGGG[C/T]AGAGCGGCAAGGTAACCAAACGCAAGCGACGTCCTATCCCTGTTCCTCCC

Long Flanking Sequence:

TTATTTTCTTGTGCAACCAATAGGAGACTCCAGCTTGTATGTGGGCGGAGCCTCAAATGTTAATGACAGGCGGCTGTCAGATTTCAACGTGAAGACTAATTCTACACAGGTTTGAACACAAAACACATCATTATAATAAGCTTAGCAACTGATTTTCTTTTCTGACTCATTTGTTTGCATGTGACTCTCACAGTTCCCTTATAATCCCTCATGTGAAGAATCAAAGAACCAGAGATCAGCAGCAGAAGCCTCACCAGCCACCGACAAACTCATTCAGCAGGTAAACAATATGCATGTCCTCTTCATATTCATTCCAGACTTTCCTCTGAACTTTGATTAATCTGTATTTTGCCATGAATTCTCAGGCACTGAGAGATGGTGGTCTGGAGTCGTTGGCTGAAGACCCACAGTTTGTATCTGTGACCAGAAAGGAGCTGGCAGAAGCCGTTAATATTGGCTTGCAGGATATAGAGAGCGTGGCTCAGGGTATTGTCAATGGG[C/T]AGAGCGGCAAGGTAACCAAACGCAAGCGACGTCCTATCCCTGTTCCTCCCAGCAAAACCAAGGAAGCCACAAGTGCAGTGTAAACACATACTGAGAGACTTTTAACAAAACCATGAGACACCATCGCCCTGAGGCTTCAGCCATTGTTTAAAATCACAGACGTAACAGTTTACGAGCAGGTAGTGATTAAGCTGTGCTGTTTTTAAAGATGGTATTTTGGTTTAGAGAAATAATGTTTCCAAAGGACACGTACCATAATGCTGTTTCAATGAGGTCTTGTGATTTTGATTTCTGATGGCTACTCTGATTCAGGTTTGTTTTTTGGTAAGCGATTATACCAAACGTCCTCAATAAAGTGTTCACACTTCTGTTCTGTGAACATCTATAATTGACTGTGTGACAATACAGACAATCATCTGAAGCGTTGTAATCTGTGGACATGTCTAAAAGGCAAGTCTTTTTATTTCTTTACTTTGTTTAAACTGCGCAGAATGGTTTAC

Associated Phenotype:

Not determined