| Entrez Gene ID | 2559 |
|---|---|
| Official Gene Symbol | GABRA6 (GeneCards) |
| Full name | gamma-aminobutyric acid type A receptor alpha6 subunit |
| Location | 5q34 |
| Other ids | Vega : OTTHUMG00000130351 MIM : 137143 HGNC : HGNC:4080 Ensembl : ENSG00000145863 |
| Other names | None |
| Summary | GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. [provided by RefSeq, Jul 2008] |
Found 6 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 7486 | 2559 | GABRA6 | 5 | 161238120 | 161238120 | Asymptomatic | HiSeq X Ten |
| 8043 | 2559 | GABRA6 | 5 | 161216974 | 161216974 | Asymptomatic | HiSeq X Ten |
| 8145 | 2559 | GABRA6 | 5 | 161244756 | 161244756 | Asymptomatic | HiSeq X Ten |
| 8299 | 2559 | GABRA6 | 5 | 161140995 | 161140995 | Asymptomatic | HiSeq X Ten |
| 8720 | 2559 | GABRA6 | 5 | 161143103 | 161143103 | Cockayne syndrome | HiSeq X Ten |
| 8846 | 2559 | GABRA6 | 5 | 161222337 | 161222337 | Xeroderma Pigmentosum | HiSeq X Ten |