ZMP

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 5 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa10825	Essential Splice Site	Available for shipment	Available now
sa21406	Essential Splice Site	Available for shipment	Available now

Mutation Details

Allele Name:

sa10825

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:

A > T

Consequence:

Essential Splice Site

Transcripts:

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
GRCz11	8	53600188

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

GTAAGTCTRTAGTGATTTTGTCATGTACTCTATTAATTAACTTGTGTTTC[A/T]GACTCAGACATCGTGAACGGGGTTTACTGGTCAGAGGCTCTCAAMACAGT

Long Flanking Sequence:

AGTGTGTTAACATAGCAACTGTTGAATCATTACAGCAGATCAATTACTATAGTTGTTGTGTTACCATAGCAACTGTAGAATCACAACAACAGATCAATTACTATAGTTGTGTTACTATAGCAACTGTAGAATCACCACAACAGATCAGTTACTATAGTTGTTGTGTTACCATAGCAACTGTAGAATCACCAAAACAGATCAGTTACTATAGTCGTTGTGTTACCATAGCAACTGTAGAATCACCACACCAGATTAATAAATTAATTAATAACAATTTCTTTCATGTGTGGTTCAAAAACACTGTAGTTTACTTGATTGAATTTACTGAAGTGATTCTACATCGTGATATATATCGTTGTCAGAATATGACAGTATATGTAATATCGCCCAGCACTAGTAATCTATATGTATCTCTGGTCTGAAAAATACAGATTACACACAGATCAGCATGTAAGTCTGTAGTGATTTTGTCATGTACTCTATTAATTAACTTGTGTTTC[A/T]GACTCAGACATCGTGAACGGGGTTTACTGGTCAGAGGCTCTCAACACAGTGTTTGTGGACAACTTTAAAAGAGACCCTTCTCTCCTATGGCAGTATTTTGGCAGCGCTCAAGGTTTCTTCAGACAGTATCCAGGTGAGTTTATATAGTGTCAAGGCAATCACATTACTGATGCAGCATTTTTAGTGTTTGAATGATTATAAAAGGGAAAGACTGTGACTGTGCTTTATTAGAGATACAGTAAATCATCAACAAAGTATGAGACGGTCAGCGCTGCTTACTCAAAAACTTGGACATTGTGTATTGCTATGAAAATATATTTTAATATCTTACATTTCAGCTACTTTTTATTTTATTTTAGATTAACGTTTGACTTATTTGTTTGTTTTTTTCTTCTTGTTTAGACAATCAAAAAATTATAATTTCTTAACAGGGCCCATAATTTTTTGCTACAGTTGCTTTTACATTTAAACAAAAAATCCAGCCAAACTAAAAGAAATAC

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa21406

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
Order Allele From EZRC

Mutation:

T > C

Consequence:

Essential Splice Site

Transcripts:

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
GRCz11	8	53602592

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

CGCCTGATGAACACGGAGTTCTAGAGTTTGACTGTCGAAATCGGAAATGG[T/C]AAGACATTTTGTTTGCTTCTCAATCCTCTTCGCATCCAGCTGAGGAGAAA

Long Flanking Sequence:

AGGAAATGAATGAATATAAATATATATGATATATAAAAAATACTATAATATGACTGAAATCATGATTAAACAAACTAAAATAAATGATAGTTAATAGTATTGTATATTTCCCGCATCAATAGTGCAGGTATCAGCCACAAAAGGCAGCAGTAGAGAGTTGTAGATTTAATATTTTTTGACCGCGTTAGCTGATTGGCTAACATCATATGACAGTTGGGTTTAGGGGTGGAGTCAGGTAAAGGGAATCAATTCATTGGATGACTTAAAAAACACCCACAAATCCAGAAACACCCACTTTTGCTCTGCAGAGACGTCATTTTTTATTAATGAAGCCTTCCACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACTATTCTGTATCTTGACAGGAATGAAGTGGACGCCTGATGAACACGGAGTTCTAGAGTTTGACTGTCGAAATCGGAAATGG[T/C]AAGACATTTTGTTTGCTTCTCAATCCTCTTCGCATCCAGCTGAGGAGAAATGCAGCTTTCTTCACTCATAAGAACGCTGCAGCCATTTTGTTGTGTTTTATTTATGTTTAAAAATGAGTTGCTTGTGTTTTATTTAGTTGTACCATATTAAAATTCCAGAGGAAAGTCCTTACCCCAGGTGGAGGAGTTCACGTATCTTGAGGTTTTGTTGTGGAGTGAGGGAAGGATGGAGGTGAGATTGACAGGTGGATCTGTGCAGCAGCAGCAGTAATGCGGCTGATGTATCGGTCCATTGTGGTAAAGAAGGATCAATCTACTTTCCTACGTTCACCTACGGTCATGAGGTTTGGGTCAAGACTGAAAGGACAAGATCTCGGATACAAGCAGCCGGAATGAGTTTCCTTCACAGGGTGGCAGGGTGCACCATTCTAGATAGGGTGAGCAGCTCTGACAACTGCGAGGAGCTCTGAGTCAGGGCCGGCGCATCAATAGAGGCAACC

Associated Phenotype:

Not determined