CACNA2D3 (2 of 2)

Ensembl ID:
ENSDARG00000045204
Description:
calcium channel, voltage-dependent, alpha 2/delta subunit 3 [Source:HGNC Symbol;Acc:15460]
Human Orthologue:
CACNA2D3
Human Description:
calcium channel, voltage-dependent, alpha 2/delta subunit 3 [Source:HGNC Symbol;Acc:15460]
Mouse Orthologue:
Cacna2d3
Mouse Description:
calcium channel, voltage-dependent, alpha2/delta subunit 3 Gene [Source:MGI Symbol;Acc:MGI:1338890]

Alleles

There are 4 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa10825 Essential Splice Site Available for shipment Available now
sa21406 Essential Splice Site Available for shipment Available now
sa41320 Essential Splice Site Mutation detected in F1 DNA During 2016
sa41319 Essential Splice Site Mutation detected in F1 DNA During 2016

Mutation Details

Allele Name:
sa10825
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
A > T
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000066454 Essential Splice Site 118 1022 4 38
Genomic Location (Zv9):
Chromosome 8 (position 55998029)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 53770458
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GTAAGTCTRTAGTGATTTTGTCATGTACTCTATTAATTAACTTGTGTTTC[A/T]GACTCAGACATCGTGAACGGGGTTTACTGGTCAGAGGCTCTCAAMACAGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa21406
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000066454 Essential Splice Site 183 1022 5 38
Genomic Location (Zv9):
Chromosome 8 (position 55995625)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 53772862
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CGCCTGATGAACACGGAGTTCTAGAGTTTGACTGTCGAAATCGGAAATGG[T/C]AAGACATTTTGTTTGCTTCTCAATCCTCTTCGCATCCAGCTGAGGAGAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa41320
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:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000066454 Essential Splice Site 258 1022 7 38
Genomic Location (Zv9):
Chromosome 8 (position 55993736)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 53774751
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AGCCGTGTCTGAACGGAACATTAGTTCAGGCTGACATTACCAACAAAGAT[G/A]TAAGTGTGTTTACTAATATAAATATCTATTAACCGTAAATTACAATCAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa41319
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
ENSDART00000066454 Essential Splice Site 424 1022 13 38
Genomic Location (Zv9):
Chromosome 8 (position 55981256)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 53786869
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GCTCATGACTACCGTGGCCATGCCTGTGTTCAGCACCAAAAACGAGACCG[T/C]GAGTGATCATAAGCTCTCACTGCTGGGGTGGTAATTGTTAATATTGTTGA
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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