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
sa41320	Essential Splice Site	Mutation detected in F1 DNA	Not yet available
sa41319	Essential Splice Site	Mutation detected in F1 DNA	Not yet available

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
Order Allele From EZRC

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

Mutation Details

Allele Name:

sa41320

Status:

Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Not yet available

Mutation:

G > A

Consequence:

Essential Splice Site

Transcripts:

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
GRCz11	8	53604481

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

AGCCGTGTCTGAACGGAACATTAGTTCAGGCTGACATTACCAACAAAGAT[G/A]TAAGTGTGTTTACTAATATAAATATCTATTAACCGTAAATTACAATCAAA

Long Flanking Sequence:

TTATTAACCCCCTTATATGTTTTTCCCAATTTCTGTTTGACGGAGAGCAGATTTCTAAACATTACAGTTTTAATAACTCATCTCTAATCACTGATTTATTTTCTCTTTGTCATGATGACAGTAAATAATATTAGATTTGATATTCTTCAAGACACTAGTGTTCAGCTTAAAGTGACATGTAAAGGCTTCACTAGGGTAATTAGGGTAAAGTTAGGGTAATTAGGCAAGTCTTTGTATAACAGTGGTTTATTCTGGAGACAATCCAACACTAATATTGCTGAAGGGGCGAATAATATTGAGCTTAAAATGGCTTTAAAACAATTAAAAACAAAAATACTTTCTCCAGAAGAACAAATATTCTCATGAAATTCACAGGAGGGCGAATAATTTTAACCTTGACTCTATATATATTGTGTGTTTTGCAGTACAACGAGGATCTGCATTACGTGGAGCCGTGTCTGAACGGAACATTAGTTCAGGCTGACATTACCAACAAAGAT[G/A]TAAGTGTGTTTACTAATATAAATATCTATTAACCGTAAATTACAATCAAAACTCAGCAAATGTAAATAACAGTATATAGCAGTCTGTGGGAACTGGAAGTTGCTGAGAGGTTTTCTATAGTTTGCTGATGTGCTTCCAACTGAAACTGAATATTGATTAGGGGGCGGGGCATTATTTCAGTATGTTAATGTACTTCTAACTGAAACTGAATATTGAGTAGGGGGCAGGGCTTTATTTCAGTATGTTGATATACTTCCAACTGAATTTGAATATTAAGTAGGGGGCGGGGCTTTATTTAAATATGGTAATGTGCTTCTAACTGAACCTGAATATTGATTAGGAGTGGGGCTTTATTTCAGTATGTTAATGTACTTCTAACTGAAACTAAATATTGAGTAGGGGCGGGGCTTTATTTCAGTATGTTAATGTACTTCTAACTGAAACTGAATATTGAGTAGGGGCGGGGCTTTATTTCAGTATGTTAATGTACTTCTAACTGA

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa41319

Status:

Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Not yet available

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	424	1022	13	38

Genomic Location (Zv9):

Chromosome 8 (position 55981256)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	8	53786869
GRCz11	8	53616599

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

GCTCATGACTACCGTGGCCATGCCTGTGTTCAGCACCAAAAACGAGACCG[T/C]GAGTGATCATAAGCTCTCACTGCTGGGGTGGTAATTGTTAATATTGTTGA

Long Flanking Sequence:

GTAGTTTAGTCTACCTGTTTCCTGTCCTGCTTTCGCCATGTGCCCCTTTGTGTGTGTGTGTGTGTGTGTGTGTTCATTGGCTGAGTTAGTCTAATGTCTTGTTCTTCATTGGTCATGTGTCTGGTTTCTCTTTGGTTGAATCATGTCATGTGATCTTTAGTGTTTCATACGTGTACCCTCATGTTTCCTTGCTCTTGGTTTAGCTTTGTTTGTGTAACCTCTCTCTCTCTCTCTCATTAACTAATACTACCTTATTGTAAAGTGTTACCTACAGAAGCTTGATGTTTCTGTAGTTTTGATTTGTTTGCACTGGGAGTAAAAGCTGCAGGCTTTTCTTCAGTTTAGGTCACGTTTAGAAAAGCACTTGTAGCAGGCAATGAATGTCACTGATGTGTGTGTGTGTGTGTGTGTGTGTTTGTTTGTGTAGCTGGAAGACGCTCAGGGTCCAGTGCTCATGACTACCGTGGCCATGCCTGTGTTCAGCACCAAAAACGAGACCG[T/C]GAGTGATCATAAGCTCTCACTGCTGGGGTGGTAATTGTTAATATTGTTGAGAATCCTCTGAAATGTCTCATTCTGTCTATCAGTTCTGGTTCTGTTCAAATTAATAAACAACTTTGTAACGTAGGAGATTGGAAAACAATGACTAAATCACTTCCAGTCGGTGGTTGATCGATTATTTTAATCATTTATTCAAGTTATTCGTTCAAAATAGATGATTCATTTAGAAATGAGGCACATGACTGTCTTTATGAATGGATCATTGAGTCATTGACTCAAATGATTTGTTCAATATAGCGGATTTATTTAGAAATAAAGCATGTGATGGATCTTATGAATAGATAATTAAATCATTGATTAAATCATTCATTCAGAAACCGACTCATTCAAACTATTTGTTCAAAATAGCTGATTCATTTAGAAATGAGGCAAGTGACTCTTTAATGAATGAATCATTTAATCATTTAATTGTTGACTCAAATGATTCAATTCAGAAACAAAAT

Associated Phenotype:

Not determined