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

Polymorphism Information

NameALFRED UIDLocus NameLocus Symbol
3' UTR 40 bp_ VNTRSI000156MSolute carrier family 6 (neurotransmitter transporter, dopamine), member 3SLC6A3
FstAvg Het# Populations Typed
0.0130.00161
Synonyms:
Frequency on Map:    
Frequency Display Formats:     
Estimated Heterozygosity: 
Frequency Download:   
External Resources: GenBank sequence Record   Typing Protocol Record  
References: See References
Polymorphism Description:  This is a 40 bp VNTR(Variable Number Tandem Repeat) in 3' untranslated region of the gene SLC6A3, just upstream of the polyadenylation site. Since this VNTR is not in the coding region there are no structural alterations to the DAT1 protein. This polymorphism has shown to be associated with various neuro psychiatric disorders.

Note:The fragment size in bps in the allele descriptions are according to Vandenbergh et al.,1992.
Alleles:
Allele NameAllele SymbolDescription
101010 repeats of 40 bp unit (480bp)
111111 repeats of 40 bp unit (520bp)
121212 repeats of 40 bp unit (560bp)
131313 repeats of 40 bp unit (600bp)
333 repeats of 40 bp unit (200bp)
666 repeats of 40 bp unit (320bp)
777 repeats of 40 bp unit (360bp)
888 repeats of 40 bp unit (400bp)
999 repeats of 40 bp unit (440bp)

References:
- 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.

- 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.

© 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