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SLC6A3

From SNPedia
is agene
is mentioned by
Full namesolute carrier family 6 (neurotransmitter transporter, dopamine), member 3
Other namesDAT DAT1
EntrezGene6531
PheGenI6531
VariationViewer6531
ClinVarSLC6A3
GeneCardsSLC6A3
dbSNP6531
DiseasesSLC6A3
SADR6531
HugeNav6531
wikipediaSLC6A3
googleSLC6A3
gopubmedSLC6A3
EVSSLC6A3
HEFalMpSLC6A3
MyGene2SLC6A3
23andMeSLC6A3
UniProtQ01959
EnsemblENSG00000142319
OMIM126455
# SNPs30
 Max MagnitudeChromosome positionSummary
i5005473
rs1005201601,427,996
rs106479512201,442,945
rs261759601,446,604
rs265251101,446,274
rs26760706881,414,744
rs26760706981,411,328
rs2704801,412,530
rs2707221,394,407Associated with increased susceptibility to alcohol withdrawal symptoms and ADHD.
rs2836317001,393,747
rs293763901,443,613
rs296323801,444,312
rs297522601,445,501
rs3702201,415,514
rs383679001,411,740
rs386314501,392,596
rs4018401,394,962
rs40363601,438,239
rs43190550481,411,242
rs43190551481,416,097
rs43190551581,421,997
rs43190551681,406,226
rs46000021,432,710
rs46337901,431,049
rs4640491.51,423,790
rs497564601,433,286
rs634701,411,297
rs635001,443,084
rs641342901,446,912
rs686964501,404,433

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.