| Entrez Gene ID | 6538 |
|---|---|
| Official Gene Symbol | SLC6A11 (GeneCards) |
| Full name | solute carrier family 6 member 11 |
| Location | 3p25.3 |
| Other ids | Vega : OTTHUMG00000129718 MIM : 607952 HGNC : HGNC:11044 Ensembl : ENSG00000132164 |
| Other names | GAT3, GAT4, GAT-3 |
| Summary | The protein encoded by this gene is a sodium-dependent transporter that uptakes gamma-aminobutyric acid (GABA), an inhibitory neurotransmitter, which ends the GABA neurotransmission. Defects in this gene may result in epilepsy, behavioral problems, or intellectual problems. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015] |
Found 3 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 982 | 6538 | SLC6A11 | 3 | 10953839 | 10953839 | Human Skin Fibroblasts | HiSeq 2500 |
| 5010 | 6538 | SLC6A11 | 3 | 10955261 | 10955261 | Asymptomatic | HiSeq 2500 HiSeq X Ten |
| 25046 | 6538 | SLC6A11 | 3 | 10995350 | 10995350 | Asymptomatic | HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning |