ALFRED: allele frequency database
      The ALlele FREquency Database   
ALFRED is a resource of gene frequency data on human populations
supported by the U. S. National Science Foundation.
ALFRED detailed record information

Locus Information

NameALFRED UIDLocus SymbolChromosomeBand Position
Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3LO000196QSLC6A355p15.3
Synonyms: DAT1 ; ADD ; ADHD ; dopamine transporter 1 ;
Sites List: See Sites List
External Resources: Entrez Gene Locus Information   OMIM description   GenBank sequence   PharmGKB Gene Information   Genopedia (HuGE Navigator)   
References: See References
Locus Description: The dopamine transporter (DAT) protein is encoded by the locus SLC6A3 and has been FISH-mapped to chromosome 5p15.3 (Giros et al., 1992 [PubMed ID: 1406597] and Vandenbergh et al., 1992 [PubMed ID: 1478653]). The SLC6A3 gene is comprised of 15 exons spanning over 64 kb (Donovan et al., 1995 [PubMed ID: 7637582] and Kawarai et al., 1997 [PubMed ID: 9300814]). The DAT protein is a 620 amino acid protein with twelve putative transmembrane domains and is a member of the Na+/Cl- dependent transporter family. Several polymorphisms in this gene have been studied such as a highly polymorphic TaqI VNTR in intron 8 (Byerley et al., 1993) [PubMed ID: 8098980], a biallelic TaqI RFLP (Vandenbergh et al., 1992) [PubMed ID: 1359373], and a 40 bp VNTR in the 3' untranslated region (3' VNTR) (Vandenbergh et al., 1992 [PubMed ID: 1478653]). The 3' VNTR has frequently been the focus of case-control association studies for various disorders (cocaine abuser with/without paranoia, behavior of cigarette smoking vs. quit smoking, and alcoholism/alcohol withdrawal symptoms) with inconsistent results.
Sites within this locus ordered by their chromosomal position in the 37.3 NCBI build:
Site Name
(Navigates to ALFRED
description)		dbSNP rs#
(Navigates to dbSNP
reference page)		Chr-PositionStatus# Populations
typed
3' UTR 40 bp_ VNTR   062
intron 9 DdeI (IVS9+54 C >T)   036
rs4975636rs4975636   138862551
rs12516758rs12516758   139034950
rs10064525rs10064525   139272150
exon 15 MspI (G2319A)rs27072   139452278
rs40184rs40184   139507751
rs11564771rs11564771   139879750
rs11133767rs11133767   140158086
exon 13 HaeIII (C1859T)rs6349   140307343
rs6869645rs6869645   140454851
rs3776512rs3776512   140711650
rs3776511rs3776511   140712950
exon 9 DdeI (A1343G)rs6347   141141279
rs27048rs27048   141264551
rs2042449rs2042449   141664651
rs2963252rs2963252   141704750
rs13161905rs13161905   141721250
rs2735917rs2735917   142026850
rs464049rs464049   142390551
Intron 4 TaqI rs461753   143121443
rs460000rs460000   143282551
rs4975646rs4975646   143340150
rs403636rs403636   143835451
rs2617605rs2617605   144252151
G278Trs6346   144316343
rs6350rs6350   144319978
rs12516948rs12516948   144436947
5'MspI (C-844T)rs2652511   144638943
rs3756450rs3756450   144814878
rs393795rs393795   148151446
rs2550948rs2550948   150344446
30 bp_VNTR   36
2-site haplotype (3' VNTR, G2319A MspI)   27
intron 9 RsaI (IVS9+102 G>T)   37

References:
- Byerley W, Hoff M, Holik J, Caron MG, Giros B. "VNTR polymorphism for the human dopamine transporter gene (DAT1)". Hum. Mol. Genet. 2:335. (1993) Online citation.

- Donovan DM, Vandenbergh DJ, Perry MP, Bird GS, Ingersoll R, Nanthakumar E, Uhl GR. "Human and mouse dopamine transporter genes: conservation of 5'-flanking sequence elements and gene structures". Brain Res. Mol. Brain Res. 30:327-35. (1995) Online citation.

- Giros B, el Mestikawy S, Godinot N, Zheng K, Han H, Yang-Feng T, Caron MG. "Cloning, pharmacological characterization, and chromosome assignment of the human dopamine transporter". Mol. Pharmacol. 42:383-90. (1992) Online citation.

- Kang AM, Palmatier MA, Kidd KK. "Global variation of a 40-bp VNTR in the 3'-untranslated region of the dopamine transporter gene (SLC6A3)". Biological Psychiatry 46:151-60. (1999) Online citation.

- Kawarai T, Kawakami H, Yamamura Y, Nakamura S. "Structure and organization of the gene encoding human dopamine transporter". Gene 195:11-8. (1997) Online citation.

- Vandenbergh DJ, Persico AM, Hawkins AL, Griffin CA, Li X, Jabs EW, Uhl GR. "Human dopamine transporter gene (DAT1) maps to chromosome 5p15.3 and displays a VNTR". Genomics 14:1104-6. (1992) Online citation.

- Vandenbergh DJ, Persico AM, Uhl GR. "A human dopamine transporter cDNA predicts reduced glycosylation, displays a novel repetitive element and provides racially-dimorphic TaqI RFLPs". Brain Res. Mol. Brain Res. 15:161-6. (1992) Online citation.

Top

© 2012 Kenneth K Kidd, Yale University. All rights reserved. The full Copyright Notification is also available.
Originally prototyped by Michael Osier with the aid of Kei Cheung
Upgrades and maintenance since 2002 by Haseena Rajeevan