ZMP
cacna2d4a
Ensembl ID:
ZFIN ID:
Description:
Novel protein similar to vertebrate calcium channel, voltage-dependent, alpha 2/delta 3 subunit (CAC
Human Orthologue:
CACNA2D4
Human Description:
calcium channel, voltage-dependent, alpha 2/delta subunit 4 [Source:HGNC Symbol;Acc:20202]
Mouse Orthologue:
Cacna2d4
Mouse Description:
calcium channel, voltage-dependent, alpha 2/delta subunit 4 Gene [Source:MGI Symbol;Acc:MGI:2442632]
Alleles
There are 8 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa15879 | Essential Splice Site | Available for shipment | Available now |
sa31396 | Nonsense | Available for shipment | Available now |
sa20268 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa15879
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000048023 | Essential Splice Site | 193 | 1091 | 6 | 39 |
ENSDART00000136069 | Essential Splice Site | 142 | 743 | 4 | 24 |
Genomic Location (Zv9):
Chromosome 4 (position 19225939)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 4 | 20569274 |
GRCz11 | 4 | 20290249 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AATACGCAGCAAAGCGWCGTACAAGTGCCCACAAATGTTTATAAYAAAGG[T/C]ACGTGCCATAAGTGATATTTTACCCCTTAATTAGGAACTGAACATAAAGC
Long Flanking Sequence:
ATGGTGAAGGAATTTGCTGAGGAAATGGAGAACATGCTGGGCAGAAAAATGAAATCAGTTAAGGTCAGATATTTCAATGTTTTGTAATAATTACTATTGCACTAAATAATCATTTCGTTTATTTGTTGAAAGCTTTTTTTAATATAAGAGTGATTTAAATTTTTTTTTATTTCATGTCATTTATAGAGAATGGCAGAGACAGCAGAAGACGCAGATTTTTATCATGAATTTAATGCCACATTAGAGGTGAGTTATCCAGCAGTCCTTCGATCGATCTCCCTCACCTCCATTCATTTATTATTATACATTTAATTTTTCCTGCTTTTACTTTTGCAGTTTGACTACTACAATTCCATGTTGATTAACACATTAAATGAAGATGGAAACAACATAGAGCTGGGGGGTGAATTTCCTTTGGAGGAGAATGAACACTTCAACAATCTGCCTGTCAATACGCAGCAAAGCGTCGTACAAGTGCCCACAAATGTTTATAACAAAGG[T/C]ACGTGCCATAAGTGATATTTTACCCCTTAATTAGGAACTGAACATAAAGCTAATCTTTCCTTGTCACTTAGATCCTGATATCCTGAACGGGGTGTTTATGTCAGAAGCACTGAATGACATATTTATCAGTAACTTTGAGAAGGACCCGACTCTAACCTGGCAGTACTTCGGCAGTTCAACTGGATTCTTTAGACTTTACCCAGGTAATCAGAACAAAAACAGCCTTACCACTTCAAATTCACCAGTGCAGTGTACCAAACATGTACATTTGCTCATTCACACACAGAGAGCTGAGAGTCTGATTGACAAAGTGTAATTACTGGTGTAATTACTGGTGACAGTGACTCAGGCTTTTCTATCTGCCTCTCTCATTCATCATCATGTCTTCTGAGTACACACACAGAAACCAAACCAAAAAACTCAGGCTCTCCGCATCAAACAAGAATTCTCTCTAAAGGAAATATTTTTATATATTTTTTCTAAGGTATTAAGTGGACACC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa31396
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000048023 | Nonsense | 522 | 1091 | 16 | 39 |
ENSDART00000136069 | Nonsense | 466 | 743 | 14 | 24 |
Genomic Location (Zv9):
Chromosome 4 (position 19210062)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 4 | 20553397 |
GRCz11 | 4 | 20274372 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTGTGGTTGGCACTGATGTTCCCTTGAAGGAGCTCATGAGATTGGCTCCT[C/T]GATACAAGGTGCCTTAATAATATCATCAGTTCTCTGTTGATCACATCTAA
Long Flanking Sequence:
TTTTTTACATTTTATAATGAACTTATTACAGTAAAAACTAAATTTCATTTATAACAGAATTACACTAGTTTTTGCCTTGATTTGCTTGCCGATGTTTTCTGCATTAGTCCTCTCTATTCATCGAGTGACAGGATTTGCATTTAAAAAAAAACTGATTAATTTACAACATTAAATTGAAACATTTCTTTTCAATTAGCTTTTTTGTAGCTCAGCAATAAAAAAAATAAAAAAGGTTACGTCAAATTACGTCAGTACATCAATCTCATTCTCCTCTCAGATGGGATGGTGGGCCAAATCAAAGGTTACAATTGGCTAACTTTGGCTTTGGTGAAATTTGTAGTAAAACCATGGTTAAATTCCACTAGAATACAGACTGAATGAGAATTTGTATTCAAAATGTAAATTTTGTTCTTTTTCTCACTGTGCAGCTCTCTCATGGCATCCTCCTCGGTGTGGTTGGCACTGATGTTCCCTTGAAGGAGCTCATGAGATTGGCTCCT[C/T]GATACAAGGTGCCTTAATAATATCATCAGTTCTCTGTTGATCACATCTAACTCTTTTCCATTCACAGAACAGACTGTGTCCATGGAGATTATTGCATACAGAGTGACTGATTGTTTAGACACCAGACTGAATAATAAATATGTGATTTTCCTGAATGATTTATTCTGATTTTTTTTCCATTCTCATTTCAGCTGGGGGTTCACGGCTATGCATTCTTAAACACTAATAATGGTTATATACTCTCTCATCCTGACCTTCGACCTCTGGTGAGCAGCTGCATACATTCCCTTTAGAGGTCTTTTGACTTACTATCATAATTTGCTGTTAATTTAATCACTTTCACACCATCCAAAATATAGGTGTTTGTTTTTTCCTCTTTGATAGAAATTTGAAGAGGCATTTAGCTAAAACATGATGCTTAATGATTCATAAAATAAGTCAATAGCACTTTGAGAGTCAGAAAACTATATTTAGGCAAAATAAAATTAATACCACTCAAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa20268
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000048023 | Essential Splice Site | 882 | 1091 | 30 | 39 |
ENSDART00000136069 | None | None | 743 | None | 24 |
Genomic Location (Zv9):
Chromosome 4 (position 19181674)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 4 | 20525009 |
GRCz11 | 4 | 20245984 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CGTCATTGACAGTAATGGCTTCATCATCATCTCTAGGGACAAGGCTGATG[T/C]AAGAGCACTTAAAGTGACAGGTTAAGGCCAAATTAAAATGACATTCGCAA
Long Flanking Sequence:
GCCTGTGCAGATCATGTGATGGCTTAAAGGCAGAACAGTGATTTTATAAGCAGGAGTTTAGATCAAAGCTATCAGTCCTGAGCCAGTGATTTCACATCAATTAACATTTTACCATTTTTTCTCTGCTGCTTCATTTTATCCGGATGACCCTTAGCCGAACGACACAGATGTATGTACGCATTACAAGGATAAACATGATACCATAAAAACGGAATACATATAAATGCTCAGTTTCTCCATCTTCATGATTTTCTGTCTTTTTTTACAGTGTTCAGGCATAGAGGGGCTTTGTCCTTTAAGCTGTAGTGATAATCCGGTGAGCATCTTATTGCAGTTATAGTGCATAAGTTGTGGGTATCAAGATTACAGGCATATGTATGAAAATATGTTTTGCCATTCCTCATTTGAGCATGACGTGTTTTTTTTTTCTCAACAGGACATTAGCTGCTACGTCATTGACAGTAATGGCTTCATCATCATCTCTAGGGACAAGGCTGATG[T/C]AAGAGCACTTAAAGTGACAGGTTAAGGCCAAATTAAAATGACATTCGCAACCCACCAAACATCCGTAATGACGTAAAATGATTTATTTTCAAATGAAACGATATCCATTTAGAAACATGTAGGGCAAGATTGAATTTTTATCTTTTCAGCTAATTGATCGGACTGTGAAAATGGCTGATATACATCAAAATAAAGCCACATTTTAATGCAAGTAAAACTGTTGTTTTACTCTTAATTACATTAATCAATAGACAGTGTAACCAAAATGGCTTTAGTAGAAATGCAGCGCACTTGCAAGTTGTATTAGGGTTTTTATTTCTACATATTTGCTTTTTTAGAACAGTGCCTATGCAGTTAGCCTTTGCTAGACAAGGTTGTAGATTTTCATAACATGAAGGTCACCTTAAAACTGCCAAAAATACAGCAAAAAGTGTGATCAAGCTAAGTAGGTTAACTGTGTGTACTGTATATGTGTATATAAAATGAGATTTACTGAGGTA
Associated Phenotype:
Not determined