SLC6A3
| is a | gene |
| is | mentioned by |
| Full name | solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 |
| Other names | DAT DAT1 |
| EntrezGene | 6531 |
| PheGenI | 6531 |
| VariationViewer | 6531 |
| ClinVar | SLC6A3 |
| GeneCards | SLC6A3 |
| dbSNP | 6531 |
| Diseases | SLC6A3 |
| SADR | 6531 |
| HugeNav | 6531 |
| wikipedia | SLC6A3 |
| SLC6A3 | |
| gopubmed | SLC6A3 |
| EVS | SLC6A3 |
| HEFalMp | SLC6A3 |
| MyGene2 | SLC6A3 |
| 23andMe | SLC6A3 |
| UniProt | Q01959 |
| Ensembl | ENSG00000142319 |
| OMIM | 126455 |
| # SNPs | 30 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| i5005473 | |||
| rs10052016 | 0 | 1,427,996 | |
| rs1064795122 | 0 | 1,442,945 | |
| rs2617596 | 0 | 1,446,604 | |
| rs2652511 | 0 | 1,446,274 | |
| rs267607068 | 8 | 1,414,744 | |
| rs267607069 | 8 | 1,411,328 | |
| rs27048 | 0 | 1,412,530 | |
| rs27072 | 2 | 1,394,407 | Associated with increased susceptibility to alcohol withdrawal symptoms and ADHD. |
| rs28363170 | 0 | 1,393,747 | |
| rs2937639 | 0 | 1,443,613 | |
| rs2963238 | 0 | 1,444,312 | |
| rs2975226 | 0 | 1,445,501 | |
| rs37022 | 0 | 1,415,514 | |
| rs3836790 | 0 | 1,411,740 | |
| rs3863145 | 0 | 1,392,596 | |
| rs40184 | 0 | 1,394,962 | |
| rs403636 | 0 | 1,438,239 | |
| rs431905504 | 8 | 1,411,242 | |
| rs431905514 | 8 | 1,416,097 | |
| rs431905515 | 8 | 1,421,997 | |
| rs431905516 | 8 | 1,406,226 | |
| rs460000 | 2 | 1,432,710 | |
| rs463379 | 0 | 1,431,049 | |
| rs464049 | 1.5 | 1,423,790 | |
| rs4975646 | 0 | 1,433,286 | |
| rs6347 | 0 | 1,411,297 | |
| rs6350 | 0 | 1,443,084 | |
| rs6413429 | 0 | 1,446,912 | |
| rs6869645 | 0 | 1,404,433 |
The dopamine transporter SLC6A3 gene, also known as DAT1, has been studied in various neurological and neurodegenerative disorders.
A well-studied variation found in the 3' region of the DAT is a 40 bp variable number tandem repeat (VTNR). This VNTR ranges from 3 to 11 copies with the 9-repeat (9R or 440 bp) and 10-repeat (10R or 480 bp) polymorphisms being the two most common alleles. [PMID 7557351] This repeat is not currently represented in SNPedia due to its absence in dbSNP; however, it is represented in OMIM (see 126455.0001).
In SNPedia, mutations in the SLC6A3 gene are associated with a recessively inherited form of Parkinson's disease that is also referred to as infantile Parkinsonism-dystonia.
In 250 alcohol-dependent Caucasian subjects: Of the 24% who exhibited withdrawal seizures, 4 SNPs were associated with presence and severity of the seizures: DAT1-VNTR, rs27072, rs27048, and rs2963238. [PMID 18070248]
A recent study suggests that people with two copies of the DAT 10R may be more likely to have attention deficit hyperactivity disorder (ADHD). [1]
Rs464049 has been associated with mood disorders.
