ZMP
LOC795942
Ensembl ID:
Human Orthologue:
KCNA1
Human Description:
potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)
Mouse Orthologue:
Kcna1
Mouse Description:
potassium voltage-gated channel, shaker-related subfamily, member 1 Gene [Source:MGI Symbol;Acc:MGI:
Alleles
There is 1 allele of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa38062 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa38062
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 |
---|---|---|---|---|---|
ENSDART00000091547 | Nonsense | 139 | 492 | 1 | 1 |
Genomic Location (Zv9):
Chromosome 25 (position 20446084)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 25 | 19858061 |
GRCz11 | 25 | 19956012 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGGCAATGGAGAAGTTTCGTGAGGATGAGGGCTTTATCCGTGAGGAGGAG[C/T]GACCTTTACCAGAGAAAGAGTTTCAGCGACAAATCTGGCTCCTGTTTGAG
Long Flanking Sequence:
GGAAGGAAAGCAACGCCTTTGGGAGGGCAATTGGATGTCTACTTCATTAAATTAACTCCTGCGGAGCTTCAACTTTGACCTGCAGGATGACAGTTGTGGCTGGGGACAACATGGATGAGACCTCTGCCGTGCCGGGGCATCCGCAGGACACATACCCCCCTGACCATGACGATCATGAATGCTGTGAACGGGTGGTCATCAATATAGCGGGCCTGCGATTCGAGACGCAGCTTAAAACTCTCGCCCAGTTCCCAGAGACTCTCTTAGGTAACCCAAAGAAGCGGATGCGTTATTTCGATCCCTTGAGAAACGAGTACTTCTTTGACAGAAATCGTCCGAGCTTTGATGCCATCCTGTACTATTATCAGTCCGGCGGACGACTGAGAAGGCCGGCGAATGTCCCGTTGGATATGTTCTCAGAAGAAATTAAGTTCTATGAACTTGGGGTGGAGGCAATGGAGAAGTTTCGTGAGGATGAGGGCTTTATCCGTGAGGAGGAG[C/T]GACCTTTACCAGAGAAAGAGTTTCAGCGACAAATCTGGCTCCTGTTTGAGCATCCTGAGAGCTCAGGGCCAGCCAGAGGAATTGCTATTGTGTCTGTTATGGTCATTTTAATTTCCATCGTCATTTTCTGTTTGGAGACTTTACCTGAACTGAAAGAGGACCCTGAGGGGCGTATAAAGATTATAGGCAACACCACATACTACTACAAACCTAGCATTCTGGCCGATCCATTCTTCATCATTGAGACCCTCTGCATTATCTGGTTTTCATTCGAATTGATAGTGCGCTTCTTTGCTTGCCCAAGCAAAGCGGCCTTCTTTAAGAACATGATGAACACCATTGACATTGTGGCTATTATCCCTTACTTCATCACGCTGGGCACAGAGTTAGCAGAGGAACAAGACGGAAAAGAGGGAAAGGGCGAGCAGGCAACATCACTGGCCATCCTCAGGGTGATCCGTCTGGTCAGGGTGTTCAGAATCTTCAAGCTGTCCAGGCAC
Associated Phenotype:
Not determined