| Entrez Gene ID | 2556 |
|---|---|
| Official Gene Symbol | GABRA3 (GeneCards) |
| Full name | gamma-aminobutyric acid type A receptor alpha3 subunit |
| Location | Xq28 |
| Other ids | Vega : OTTHUMG00000024183 MIM : 305660 HGNC : HGNC:4077 Ensembl : ENSG00000011677 |
| 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 3 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 22144 | 2556 | GABRA3 | X | 151713893 | 151713893 | Asymptomatic | HiSeq X Ten |
| 22366 | 2556 | GABRA3 | X | 151491587 | 151491587 | Xeroderma Pigmentosum | HiSeq X Ten |
| 24193 | 2556 | GABRA3 | X | 151548256 | 151548256 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |