ZMP
CACNA1C
Ensembl ID:
Description:
calcium channel, voltage-dependent, L type, alpha 1C subunit [Source:HGNC Symbol;Acc:1390]
Human Orthologue:
CACNA1C
Human Description:
calcium channel, voltage-dependent, L type, alpha 1C subunit [Source:HGNC Symbol;Acc:1390]
Mouse Orthologue:
Cacna1c
Mouse Description:
calcium channel, voltage-dependent, L type, alpha 1C subunit Gene [Source:MGI Symbol;Acc:MGI:103013]
Alleles
There are 4 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa30643 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa31689 | Nonsense | Available for shipment | Available now |
sa41314 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa30643
Status:
Mutation detected in F1 DNA
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:
Not yet available
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000065375 | Nonsense | 470 | 839 | 16 | 21 |
Genomic Location (Zv9):
Chromosome 8 (position 55571455)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 8 | 53477227 |
GRCz11 | 8 | 53458581 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTGATCAGTTCAGCAGTGTTACCCAGCGTCCTCTGCAGCTGCCGCTCCCA[C/T]AGAGTCAGCCACTGTCCGATGCCAGATCCTCCAACTCCAATATAAACAAT
Long Flanking Sequence:
CTGGAGAAACAGAATGTTAAATAAAAAAAGCAGTGGGCGTGGCTTGTTTTTTCTACTGTGAGCTGATTGGAGTAGGCGTTTCATTCAGAAAGATGGGGAAAAGGGTTTGACAAGAGTTGTTACAGACTCCTCCTCCTCACCATTTCTGTGTGTTGTGACAGCTGGAGGGGCGTGGTTAAGTATGTTAGCCACGCCCAATACCTTAGACAGACCTAATCTGAGAATTTAACTAAAAACAAACATAAGTGCATCTGCAGATTTCAATTAAAGATTACAAGAGCAGACTTTTTCTTTCTTAGTGGCATGCGCAGATGAATTGTTCACCACAAAACTAGCAATATGAGACGATCATCAAAACTAACCGTATTGATTCCATTTGGACTTTTGCTTTTGCGCGTGTGTGTGTGTGCTTTCAGAGGAACGGTGTTGTGTTTGGGAATCATGTGAGTGGTGATCAGTTCAGCAGTGTTACCCAGCGTCCTCTGCAGCTGCCGCTCCCA[C/T]AGAGTCAGCCACTGTCCGATGCCAGATCCTCCAACTCCAATATAAACAATGCCAATGGTCCCGGCATCACCAACGGCTGGCACAGCGGCAGGAGCCTGGTGTCATCCCTGAGCGTCTGCCTGAACCTCAGAGCAGATGGAGAAACACAGACACACAGGTCAGCCTCATGTTTACAGAATTATTCCGCCTCCAATTCGATCGATATTTATATAGTGATATTTAATAGAGCAAACACATGTTCACAGTGTTTCTAATAATATTTTTTCTGGAGAAAGTCTTCATCAATCAATCAATCAATCAATCAATCAATCAATCAATCAATCAATCAATCAATCTATTAATCTATCAATCAATCATTCAATCAATCAATCAATCTATTAATCTATCAATCAATCATTCAGTTGGTCAGACAGCCAACCAACCAATAAACAAATCAATCACTTAATCAATCAATCAATCAATCAATCAGACAACCAACCAACAAACAAATCAATCACTTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa31689
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 |
---|---|---|---|---|---|
ENSDART00000065375 | Nonsense | 601 | 839 | 18 | 21 |
Genomic Location (Zv9):
Chromosome 8 (position 55569095)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 8 | 53479587 |
GRCz11 | 8 | 53460941 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAGTCCGAGACCAGGACATGTATGAGAGTGTGTGTGATGATGAAGACGAG[C/T]AGCTGATTTCCCCGCATCCCCAGCGCTCCTCAAGACGACTCCTGCGCTCC
Long Flanking Sequence:
GTTTAAAAACTAGCCTAGAGCACCGTCTGCTGTTAAACCCTAGCCTAGAGCGCCGTCTGCTGTTTAAAAACTAGCCTAGAGCGACATCTGCTGTTTAAAAACTAGCCTAGAGCGCCATCTGCTGTTAAACTTAAGCCTAGAGTGCCGTCTGCTGTTAAACACTAGCCTAGAGCACTGTATTTTAAACACTAGCCTAGAGCACTGTTTTCTGTTAAAAACTTGACTAGAGCGGCATCTGCTGTTTAAAAACTAGCCTAGAGCAGCATCTGCGATTTACAAACTAGCCTAGAGCGCCATATGCTGTTAAACACTAGTATAAAGCACCATCTGCTGTTAAATACTAGCCTAGAGCACCATCTGCTGTTGGAAAAGCAGAATTTTGAGCTGTAACAGTGCTTTGTCCTGCAAGGTCATACAGAGACGTTCAAGACACACTCAGTGATGGAGATTCAGTCCGAGACCAGGACATGTATGAGAGTGTGTGTGATGATGAAGACGAG[C/T]AGCTGATTTCCCCGCATCCCCAGCGCTCCTCAAGACGACTCCTGCGCTCCACGGCTCCAGGTCAGAGACCAGACAGACGAAATACGCATTTTACAGCTTCACACCCAACAACTTTCACACTGCTGTTGACTGTGAATGACTTCAGAAATGACTGTGAGCACGTGTACACAGTGGCAAATCAGCTCTGTTTAAGAACTCAACAGCGCTCAAATGTATTGCATTTTTTAAATTTTACTATCAATCGGTACCGAATTCCAGTATCATGACAACCCTAGTTGAAACTGAAATTAGAAACTTAAATCCTTCTCACGACACCTGCAATGTTGTTAGTTTACTGAATATTTTTCCATATGAAGAAACTCATGTTGATGTGTTTGTTTCTCGGTTCAGCCTCCCACAGGTCTGCTTTTCATTTCGAGTGTCTGCGCAAACAGAGTCAGGATCAGATTCAGCTTCGTCCCGCAGCTTCACCACCACAGCATCATCAGGTGATCAACAAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa41314
Status:
Mutation detected in F1 DNA
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:
Not yet available
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000065375 | Nonsense | 824 | 839 | 21 | 21 |
Genomic Location (Zv9):
Chromosome 8 (position 55565302)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 8 | 53483078 |
GRCz11 | 8 | 53464432 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGAGTCCAAATCTACGAGATTACAGCGATGAGGAGACGGACAGTAGCAGC[C/T]GACGGGACGAGGATCTGGCCGACGAAATGATCTACGTCTCAGTGTTGTAG
Long Flanking Sequence:
CTCACCATTTACACTGCATTTGCACATTTACTCACCATTTACGCTGTTTACTCACCATTTTTACTGCATTTACTTGAGATATACACTGTTTACACATTTACGCACCATTTACACTGCGTTTATACTCACTTTTTACACTGTGGTGTAAATGGCGAGTAAATGTGTAAACAAAGTTAAGCTGACTTTGGACTTACTCACCATTTACACCGAGTTTATAAATAAATAGTTTTTAGTCTTAGCATATGTCAAATCCTGTTGTGCTGACGCTGTGTATTTGCCCATAGGTGATGATATCTGGTGGACTGGGAAAATACGCGAAGGATCCAAAGTTTGTGACTGTAACCAAACACGAGATTGCAGACGCTTGCGAAATGACAATCGACGAGATGGAAAGTGCCGCTAGCAACCTACTGAATGTGACGCTGGGCTCTGGGGGAAACGAGACAGGTTTGAGTCCAAATCTACGAGATTACAGCGATGAGGAGACGGACAGTAGCAGC[C/T]GACGGGACGAGGATCTGGCCGACGAAATGATCTACGTCTCAGTGTTGTAGTGTTGTAAAAACGAGGTAACCGTGCCTTTAAAAACTGCAGTGTCAAGCTCTGCTGCTCACGCTGACCAATCGCTTTACACTCCTTTTGAGCTTTTCATGTAGTTAAACCTACTGATGTCTTGGGGAAATTTCCAAAACTGATAAACTGGAAAATCTGTTCAACTTTTGGTGATTCCAAACCAACTTAACCAGAAAAAGCTCACTTGGTCAAACAGATGCACCTTCGCTAACCGTTTAAAGCAATCCAGGCTCATTGGAAGTATGTGTTTGGAGCTACATTGTAGCAAATCTGAAATTCATTGCTCAGAGTGTGTTTTATTGTACGTTTCAGGTGATAAATCCACTAGAGGGCGCTGTCTACATTTTTAAGTGAACCTGAAATGCGTTACTCAGGGTTCGTTTGGATGTATATTTCAGATGAACAAATCCACTAGAGGGCGCTGTCTACAT
Associated Phenotype:
Not determined