| Entrez Gene ID | 6509 |
|---|---|
| Official Gene Symbol | SLC1A4 (GeneCards) |
| Full name | solute carrier family 1 member 4 |
| Location | 2p14 |
| Other ids | Vega : OTTHUMG00000129537 MIM : 600229 HGNC : HGNC:10942 Ensembl : ENSG00000115902 |
| Other names | SATT, ASCT1, SPATCCM |
| Summary | The protein encoded by this gene is a sodium-dependent neutral amino acid transporter for alanine, serine, cysteine, and threonine. Defects in this gene have been associated with developmental delay, microcephaly, and intellectual disability. [provided by RefSeq, Jan 2017] |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 29575 | 6509 | SLC1A4 | 2 | 65245299 | 65245299 | Autism Spectrum Disorders | MiSeq |