Entrez Gene ID | 3746 |
---|---|
Official Gene Symbol | KCNC1 (GeneCards) |
Full name | potassium voltage-gated channel subfamily C member 1 |
Location | 11p15.1 |
Other ids | Vega : OTTHUMG00000166359 MIM : 176258 HGNC : HGNC:6233 Ensembl : ENSG00000129159 |
Other names | KV4, EPM7, NGK2, KV3.1 |
Summary | This gene encodes a member of a family of integral membrane proteins that mediate the voltage-dependent potassium ion permeability of excitable membranes. Alternative splicing is thought to result in two transcript variants encoding isoforms that differ at their C-termini. These isoforms have had conflicting names in the literature: the longer isoform has been called both "b" and "alpha", while the shorter isoform has been called both "a" and "beta" (PMIDs 1432046, 12091563). [provided by RefSeq, Oct 2014] |
Found 3 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
1400 | 3746 | KCNC1 | 11 | 17793358 | 17793358 | Autism Spectrum Disorders | NextSeq500 v2 |
29627 | 3746 | KCNC1 | 11 | 17793530 | 17793530 | Autism Spectrum Disorders | NextSeq500 v2 MiSeq |
29840 | 3746 | KCNC1 | 11 | 17793358 | 17793358 | Autism Spectrum Disorders | NextSeq500 v2 MiSeq NextSeq500 |