SLC6A3 Chromosome 5
Solute carrier family 6 member 3
Upload your DNA to see your personal genotypes for variants in SLC6A3.
What This Gene Does
This gene encodes a dopamine transporter which is a member of the sodium- and chloride-dependent neurotransmitter transporter family. The 3' UTR of this gene contains a 40 bp tandem repeat, referred to as a variable number tandem repeat or VNTR, which can be present in 3 to 11 copies. Variation in the number of repeats is associated with idiopathic epilepsy, attention-deficit hyperactivity disorder, dependence on alcohol and cocaine, susceptibility to Parkinson disease and protection against nicotine dependence.[provided by RefSeq, Nov 2009]
Gene Info
Gene Group
Solute carrier family 6
Locus Type
gene with protein product
Location
5p15.33
Ensembl
ENSG00000142319
Associated Conditions (11)
Parkinsonism-dystonia
infantile
SLC6A3-related disorder
Classic dopamine transporter deficiency syndrome
Tobacco addiction
susceptibility to
Inborn genetic diseases
See cases
Schizophrenia
Nicotine dependence
protection against
Key Variants
RS112801202
Conflicting classifications of pathogenicity
Parkinsonism-dystonia, infantile, Parkinsonism-dystonia
Health Risk
RS114563841
Conflicting classifications of pathogenicity
Parkinsonism-dystonia, infantile, SLC6A3-related disorder
Health Risk
RS115282473
Conflicting classifications of pathogenicity
Parkinsonism-dystonia, infantile, Parkinsonism-dystonia
Health Risk
RS145114326
Conflicting classifications of pathogenicity
Parkinsonism-dystonia, infantile, Classic dopamine transporter deficiency syndrome
Health Risk
RS1579729357
Conflicting classifications of pathogenicity
Classic dopamine transporter deficiency syndrome, Parkinsonism-dystonia, infantile
Health Risk
RS186229286
Conflicting classifications of pathogenicity
Parkinsonism-dystonia, infantile, Parkinsonism-dystonia
Health Risk
RS200712598
Conflicting classifications of pathogenicity
Parkinsonism-dystonia, infantile, Inborn genetic diseases
Health Risk
RS28364997
Conflicting classifications of pathogenicity
Parkinsonism-dystonia, infantile, Classic dopamine transporter deficiency syndrome
Health Risk
RS375416292
Conflicting classifications of pathogenicity
Parkinsonism-dystonia, infantile, Parkinsonism-dystonia
Health Risk
RS431905516
Conflicting classifications of pathogenicity
Classic dopamine transporter deficiency syndrome, Parkinsonism-dystonia, infantile
Health Risk
RS71653633
Conflicting classifications of pathogenicity
Classic dopamine transporter deficiency syndrome, Tobacco addiction, susceptibility to
Health Risk
RS757417973
Conflicting classifications of pathogenicity
Parkinsonism-dystonia, infantile, Inborn genetic diseases
Health Risk
All Variants (28)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS112801202 | Health Risk | Conflicting classifications of pathogenicity | Parkinsonism-dystonia, infantile, Parkinsonism-dystonia |
| RS114563841 | Health Risk | Conflicting classifications of pathogenicity | Parkinsonism-dystonia, infantile, SLC6A3-related disorder |
| RS115282473 | Health Risk | Conflicting classifications of pathogenicity | Parkinsonism-dystonia, infantile, Parkinsonism-dystonia |
| RS145114326 | Health Risk | Conflicting classifications of pathogenicity | Parkinsonism-dystonia, infantile, Classic dopamine transporter deficiency syndrome |
| RS1579729357 | Health Risk | Conflicting classifications of pathogenicity | Classic dopamine transporter deficiency syndrome, Parkinsonism-dystonia, infantile |
| RS186229286 | Health Risk | Conflicting classifications of pathogenicity | Parkinsonism-dystonia, infantile, Parkinsonism-dystonia |
| RS200712598 | Health Risk | Conflicting classifications of pathogenicity | Parkinsonism-dystonia, infantile, Inborn genetic diseases |
| RS28364997 | Health Risk | Conflicting classifications of pathogenicity | Parkinsonism-dystonia, infantile, Classic dopamine transporter deficiency syndrome |
| RS375416292 | Health Risk | Conflicting classifications of pathogenicity | Parkinsonism-dystonia, infantile, Parkinsonism-dystonia |
| RS431905516 | Health Risk | Conflicting classifications of pathogenicity | Classic dopamine transporter deficiency syndrome, Parkinsonism-dystonia, infantile |
| RS71653633 | Health Risk | Conflicting classifications of pathogenicity | Classic dopamine transporter deficiency syndrome, Tobacco addiction, susceptibility to |
| RS757417973 | Health Risk | Conflicting classifications of pathogenicity | Parkinsonism-dystonia, infantile, Inborn genetic diseases |
| RS766191360 | Health Risk | Conflicting classifications of pathogenicity | Parkinsonism-dystonia, infantile, Parkinsonism-dystonia |
| RS1064795122 | Health Risk | Likely pathogenic | — |
| RS1756068240 | Health Risk | Likely pathogenic | Classic dopamine transporter deficiency syndrome, Classic dopamine transporter deficiency syndrome |
| RS2126324037 | Health Risk | Likely pathogenic | Parkinsonism-dystonia, infantile, Parkinsonism-dystonia |
| RS2126353885 | Health Risk | Likely pathogenic | Parkinsonism-dystonia, infantile, Parkinsonism-dystonia |
| RS431905514 | Health Risk | Likely pathogenic | Classic dopamine transporter deficiency syndrome, Parkinsonism-dystonia, infantile |
| RS749320240 | Health Risk | Likely pathogenic | — |
| RS1756409749 | Health Risk | Pathogenic | Parkinsonism-dystonia, infantile, Parkinsonism-dystonia |
| RS2477328134 | Health Risk | Pathogenic | Classic dopamine transporter deficiency syndrome, Classic dopamine transporter deficiency syndrome |
| RS267607068 | Health Risk | Pathogenic | Classic dopamine transporter deficiency syndrome, Classic dopamine transporter deficiency syndrome |
| RS267607069 | Health Risk | Pathogenic | Classic dopamine transporter deficiency syndrome, Classic dopamine transporter deficiency syndrome |
| RS431905504 | Health Risk | Pathogenic | Classic dopamine transporter deficiency syndrome, Parkinsonism-dystonia, infantile |
| RS431905515 | Health Risk | Pathogenic | Classic dopamine transporter deficiency syndrome, Classic dopamine transporter deficiency syndrome |
| RS768878455 | Health Risk | Pathogenic | — |
| RS28363170 | Health Risk | Uncertain risk allele | Schizophrenia, Schizophrenia |
| RS1755646498 | Protective | protective | Nicotine dependence, protection against, Nicotine dependence |