ZMP
cacna2d4
Ensembl ID:
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 10 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa38054 | Nonsense | Available for shipment | Available now |
sa16578 | Essential Splice Site | Available for shipment | Available now |
sa24655 | Essential Splice Site | Available for shipment | Available now |
sa24654 | Missense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa38054
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000027465 | Nonsense | 188 | 1062 | 6 | 37 |
Genomic Location (Zv9):
Chromosome 25 (position 19571129)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 25 | 18983106 |
GRCz11 | 25 | 19081057 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACGCTCACCTGGCAGTATTTCTGCAGCCAAACGGGTTTCTTCAGACTTTA[T/A]CCAGGTTTAATCACTTCTGCTTAGTATTGCTTAGCAACTTTTAAGACTCA
Long Flanking Sequence:
GAAACCATTAGCCATTGACTTTCACTTCTACTTAGACTATGCAAATCAAAGATTACCAGTTTCCAACATTCTTCAAAATATCTTCTTTTGTGTTCAATGGAAAAAATAAACTAAAATGTTTGGAGGCCACTTGAATAAATGGATTTTTTTTTTGAGTGTCCTTTACCTTTAACGTACACAGGATTAAAATGGATGTTTATGTTACTTGTATCAATTACATATTTTTTTGCATTAATAGTTTTAAAAGCAATGTGTATGTTTTGCAGAAGTGTATTTATTTTTTTATTTATTATTTTTTTTTATAATTTTGTACAAATGCAACATTTGAACTGCATTTACATCTAATATTAATTTCAGTCATGTTTATTTGCAGATCCAGATATTCTCAATGGAGTGTACATGTCAGAGGCCTTGAACGACATCTTCATCAATAACTTCCAGAAAGATCCCACGCTCACCTGGCAGTATTTCTGCAGCCAAACGGGTTTCTTCAGACTTTA[T/A]CCAGGTTTAATCACTTCTGCTTAGTATTGCTTAGCAACTTTTAAGACTCAAATGAGATTGTACACTCTTAAAAGGGATGTCATTATTTACTGATGATATGATTCAAATGTTATGGTTATGGTTATGAATGTTATTATCCAAACAAACAAAAGAGGACCGAAAGTCTGTTGACCAGTTAAACTCCGTGGACCCGGTACCAGGTCCGTGATGTCGACTTTCGCTTTAAGATTTAAAAGGCTAGCATTGCACCAGACCTCCATAAGTGGTTTCGTTTGAAAGTGTAGAATCTATATTTTATGTACATATGCATCACTTTGGTTTTTATTCTACAGTACAAAAAGTTATTTACACTGAAATACACAGTATTTTGGATACCGAGCTAGGTATTTTACATTGGTTTATTTTCATATTTTTCATATGTACACATGTACAAGTTATAGCTCAAATGAAAGCTCTTGTTAGTGCTCATATGGTTCTAGCATTCTTTTTACTGAATTTTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa16578
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000027465 | Essential Splice Site | 353 | 1062 | 11 | 37 |
Genomic Location (Zv9):
Chromosome 25 (position 19558485)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 25 | 18970462 |
GRCz11 | 25 | 19068413 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGGAGGATTTCCAGTCAGTTTTTGAGGAGTTCAACTGGCCTGACAAGAAG[G/A]TAACATAYAATCTGCTCACTCCACAGGGGAACGGAGGCCATAGCATATRA
Long Flanking Sequence:
AACTTTTTGATAGTTTTATTTAATACTGACCTTTTTTTATTTGGTCAAAATTATGTTTAATAGTTTAATTTAAATGAATTAATACCAACACTGATCAAATAACTGAAACAGATATTAATGGAAGTTTTCCTCTTCTTTGTGACATCCGTTGAGTCTTTATCCTTAATCCGTTTTGTCCTCGTTCCTCCATCCTTTCTCACCTTTCAGCATTTCAAGCTGCTTGTGGATGAGCTCCATGTAAAAGGGGAAGCTAAAGTGAAAAAAGCCATGAAGGAGTCTTTCCGTATCCTCGCTGACGTTAGTACCATTTGCAATACTTGTTCATACAAATATACAAACCTGTGCCAACCCTCTGCATGACATCGTGTTTTTCTTCCTGTCTCCAGGCCAGAGCAAATGGTCAGGGCAGCCTGTGCAACCAAGCAATTATGCTGATCACAGATGGAGCCATGGAGGATTTCCAGTCAGTTTTTGAGGAGTTCAACTGGCCTGACAAGAAG[G/A]TAACATACAATCTGCTCACTCCACAGGGGAACGGAGGCCATAGCATATGACGTACCCCTGTGGAAAAAAATTAAGCACCACATTTTTAGGTTTTCTGGATTTATTTGGTTTGAAAACAATTATAATATTGTTTTTTATACTGTAAAGATCTGAAAACATTTCTTACAAATTTCAAGTAAAGACATCATTGTTTATCATATTTATTTTCAGAAAACAACATCAGAAAAGCTAATGTTTTTATTTTGTTGTGACTGAAAATCAAAGTTATTCCACCAAATATGGTATCACATTTCAAAAAGTTGGAACTCTAAATCATTTACCACTTTGTAATGTTGCCATTCCTTTTCACAACACTTGGTACATTTAGGTATTGAAGAAACTAAGGCCCCGTTTACACTAGTGCGTTTTAGTTTTAAAACAGCGTTTTAGAATGAAAACGATTCGCGTCCACACTCGCGTTTTACCCAGCATTTCTGAACAGCTCTCCGTCCACACCAAAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa24655
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 > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000027465 | Essential Splice Site | 926 | 1062 | 33 | 37 |
Genomic Location (Zv9):
Chromosome 25 (position 19520220)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 25 | 18932197 |
GRCz11 | 25 | 19030148 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTGGAGTTCAACATCTGTGGACTTTGGCATAATGACTATGTGGTGGATGG[T/A]AAGTTAAACTTTTAGTGATAATACTGTTAATTATCAGTGGAGTGGACACT
Long Flanking Sequence:
GGTGCATCCACACTGGACTATTCTTTTTATTCTAAAAAGAATCTGGTCATCATATAATCCTAATATTAAAATAACTAATATCATAATATTAAATGGACAGAATGTGAATGCGTTTCTAAAATGTTTTCCAGGGTGACGCTGTATGACTACCAGGCCATGTGCAAGACTGGCCATCATCACAGCAGTGGAGCTCGACCTCTGCTCAGCGTATGTAAAAATGACTATCTATGACAGAGAAACGTCTTTATAATGCAGTGTTTATTGTGTTAATACTGTTGAAAATCCATCTCTGTTCATCTCACAGCCTTTCTACGCTCTACTGGCCTTAATAAAGTGGTGGTTCTCACATTTTGTGATGTAAGTGCTGTTTAGCATTCATTTATTTTACGTTCAATTTAGATATAATGTAATTTGTATTTACAGTCTTCAATCTAAACTTTCAGGTTTATGTTGGAGTTCAACATCTGTGGACTTTGGCATAATGACTATGTGGTGGATGG[T/A]AAGTTAAACTTTTAGTGATAATACTGTTAATTATCAGTGGAGTGGACACTTCAAATACTGTCATCTTCATCTGCGTAATACTTGTGTTATTATTATGTTGACCTGACAAAGCTAGCTTCCTGAAATCATAGTTAAGCTATTTCTTTCAATACTTCTGAGACATGTCAGCCCTTCAAACTGATCTGATTTTTTCCTAAAAAGGACTTTTGTGTAACAGATATGCTAGCAACATGCTAATTTGTTAGAAACATGTTGGGAACATGCTTATTCTTGCAAACAACATGCTATCAATGTGCTAATTCATACTAGAAACATTCTAGCAACATAAATATGGTAGCAACTTGCTAAATTATATGACAGCAACATGCTTCTTGCTTACAACATAAAATGTAAACAATGGAAGGTAATTTGTTAGAAATATGCTAGCAATTTATTAATTCATGTGAGAAACACACTGGTTAGTTTGTATGCTAGAATGCTTGCCATATGATAATTCATGT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa24654
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 > G
Consequence:
Missense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000027465 | Missense | 1005 | 1062 | 36 | 37 |
Genomic Location (Zv9):
Chromosome 25 (position 19517016)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 25 | 18928993 |
GRCz11 | 25 | 19026944 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTCAGTTACACTTTTGTGTGAAAGTGCAGTTTTCTTAACTCCTCTGTACA[T/G]AACGCCACGGTGAAGTGCAACAGGATGAAATCTCAGAAGATCCGCAGACG
Long Flanking Sequence:
ATCTGTTGATACTGCTCATTCAACAGACATTTAACTGACTATAAGAAACTTAATAAGTACATGTCAACTGACACTAACCCCAACCCCAGCCTAACAGTCTACTTATAATTTAATGAGAATTAGTTGGCATGTAGATTCAATGAACCTTAAGTTTAACAAACGAACCATCAAAATAAAGTGTGACTTGACTATTAATTTATACTATAATACAATAAATACTAACAATAAATATTACAGGTAAATACTGTGTAATTTACAAAACTCGTTAACAGTGATGTTCTCTGTCTTTTTCAGGATGTTTGTCCTCCAGCAGATTCCTAACAGTAATCTGGTGATGCTGGTGGTTCAGGCGGACTGTGACTGCTCTCGACAGTATGCTCCAATCACGCTCATGCCCAAAGAGGTCAAATATATCCTTTGATGATCACTACATTTGCCTTCAACTGTGAGTTCAGTTACACTTTTGTGTGAAAGTGCAGTTTTCTTAACTCCTCTGTACA[T/G]AACGCCACGGTGAAGTGCAACAGGATGAAATCTCAGAAGATCCGCAGACGGCCAGAGTCCTGTCATTCATACCATGCTCACGTAAGCTAACAAATATGTACATCAAAACGTTGTAGTATTAAAATCGAACAATAATTTTTGCAATTATTTTAAGCAATTTATTTTATTATTTTTTAATATGTTAATTATTACATTTTTAAACCCTTTAAGGCATTGTGCAATTAAAAGGTTGAGTGCATCACATGATCAGCTGCTAAATTCAAATCTGCTCTTTCAAGATGGATACAGCGATTTCTAATAAACAACATTTATTTTAGGTTTTGGACATTTAAATGCACAAAAAAACTAGCAAAACATTTGTGGTTCATAAAATACAAGCTTAGTTTAGGTCACAATTCATGTTATTAACTACTGGCTTATTACCTTTCTATTATTAAGATGTTAATAATCAATAGAAGTTATAAAGTATGATTCTGCATCCCTAATTCTGCCCAAAACTT
Associated Phenotype:
Not determined