ALFRED detailed record information
Synonyms: rs1800779 ;
|Fst||Avg Het||# Populations Typed|
Frequency Display Formats:
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.
|Allele Name||Allele Symbol||Description|
- 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