| Entrez Gene ID | 2558 |
|---|---|
| Official Gene Symbol | GABRA5 (GeneCards) |
| Full name | gamma-aminobutyric acid type A receptor alpha5 subunit |
| Location | 15q12 |
| Other ids | Vega : OTTHUMG00000171824 MIM : 137142 HGNC : HGNC:4079 Ensembl : ENSG00000186297 |
| 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. Transcript variants utilizing three different alternative non-coding first exons have been described. [provided by RefSeq, Jul 2008] |
Found 4 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 18770 | 2558 | GABRA5 | 15 | 27189655 | 27189655 | Asymptomatic | HiSeq X Ten |
| 19002 | 2558 | GABRA5 | 15 | 27140301 | 27140301 | Asymptomatic | HiSeq X Ten |
| 19076 | 2558 | GABRA5 | 15 | 27137820 | 27137820 | Asymptomatic | HiSeq X Ten |
| 19194 | 2558 | GABRA5 | 15 | 27116908 | 27116908 | Asymptomatic | HiSeq X Ten |