Entrez Gene ID | 388662 |
---|---|
Official Gene Symbol | SLC6A17 (GeneCards) |
Full name | solute carrier family 6 member 17 |
Location | 1p13.3 |
Other ids | Vega : OTTHUMG00000011761 MIM : 610299 HGNC : HGNC:31399 Ensembl : ENSG00000197106 |
Other names | NTT4, MRT48 |
Summary | The protein encoded by this gene is a member of the SLC6 family of transporters, which are responsible for the presynaptic uptake of most neurotransmitters. The encoded vesicular transporter is selective for proline, glycine, leucine and alanine. In mouse, the strongest expression of this gene was in cortical and hippocampal tissues where expression increased during embryonic brain development and peaked postnatally. Defects in this gene cause a form of autosomal recessive intellectual disability. [provided by RefSeq, Jul 2017] |
Found 2 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
811 | 388662 | SLC6A17 | 1 | 110735253 | 110735253 | Human Skin Fibroblasts | HiSeq 2500 |
22514 | 388662 | SLC6A17 | 1 | 110728974 | 110728974 | Asymptomatic | HiSeq 2500 Single cell Sequencing Cell cloning |