ALFRED detailed record information
Synonyms: rs1799983 ;
|Fst||Avg Het||# Populations Typed|
Frequency Display Formats:
External Resources: dbSNP rs# Record HGMD Record PharmGKB Variant Information Record
References: See References
Polymorphism Description: This polymorphism is due to missense mutation within exon 7 of the endothelial nitric oxide synthase (eNOS) gene This change causes GAG to GAT substitution, which results in the replacement of glutamic acid by aspartic acid (Glu298Asp) This variant is significantly associated with coronary spasm.
|Allele Name||Allele Symbol||Description|
|Codon 298 Asp||T||5'-ctgctgcaggccccagat GATcccccagaactcttccttct-3'|
|Codon 298 Glu||G||5'-ctgctgcaggccccagat GAGcccccagaactcttccttct-3'|
- Shimasaki Y, Yasue H, Yoshimura M, Nakayama M, Kugiyama K, Ogawa H, Harada E, Masuda T, Koyama W, Saito Y, Miyamoto Y, Ogawa Y, Nakao K. "Association of the missense Glu298Asp variant of the endothelial nitric oxide synthase gene with myocardial infarction". J Am Coll Cardiol 31:1506-10. (1998) 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