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
A(-922)GSI001189TNitric oxide synthase 3(endothelial cell)NOS3
FstAvg Het# Populations Typed
0.1350.3344
Synonyms: rs1800779 ;
Frequency on Map:    
Frequency Display Formats:     
Estimated Heterozygosity: 
Frequency Download:   
External Resources: dbSNP rs# Record  PharmGKB Variant Information Record  
References: See References
Polymorphism Description:  This polymorphism is due to a point mutation A-> G in the 5'-flanking region(949bp upstream of ATG in exon1) of the eNOS gene.
Alleles:
Allele NameAllele SymbolDescription
AA5'-tttctccagcccctcagatg Acacagaactacaaaccccag-3'
GG5'-tttctccagcccctcagatg Gcacagaactacaaaccccag-3'

References:
- Nakayama M, Yasue H, Yoshimura M, Shimasaki Y, Kugiyama K, Ogawa H, Motoyama T, Saito Y, Ogawa Y, Miyamoto Y, Nakao K. "T-786-->C mutation in the 5'-flanking region of the endothelial nitric oxide synthase gene is associated with coronary spasm". Circulation 99:2864-70. (1999) 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