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
5' promoter -521C/TSI000215IDopamine receptor D4DRD4
FstAvg Het# Populations Typed
0.0690.41133
Synonyms: rs1800955 ;
Frequency on Map:    
Frequency Display Formats:     
Estimated Heterozygosity: 
Frequency Download:   
External Resources: GenBank sequence Record  dbSNP ss# Record  PharmGKB Variant Information Record  
References: See References
Polymorphism Description:  This site is located 521 bp upstream of the first codon. The polymorphism consists of a C or T at this position on the coding strand. There is a report that this polymorphism could affect the transcription of the DRD4 gene.
Ancestral Allele:  T
Ancestral Allele Determine by: Sequence on primate (Chimpanzee, Gorilla, Orangutan, Rhesus) DNA.
Alleles:
Allele NameAllele SymbolDescription
BssHII Site AbsentT5'-ggagcgggcgtggagg G T GCGC acgaggtcg-3'
BssHII Site PresentC5'-ggagcgggcgtggagg G C GCGC acgaggtcg-3'

References:
- Okuyama Y, Ishiguro H, Arinama T, et al. "Identification of a polymorphism in the promoter region of DRD4 associated with the human novelty seeking personality trait". Mol. Psychiatry 5:64-9. (2000)
Online citation.

- Okuyama Y, Ishiguro H, Arinama T, et al. "A genetic polymorphism in the promoter region of DRD4 associated with expression and schizophrenia". Biochem. Biophys. Res. Commun. 258:292-295. (1999) Online citation.


© 2014 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