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

Name	ALFRED UID	Locus Name	Locus Symbol
Glu298Asp	SI001188S	Nitric oxide synthase 3(endothelial cell)	NOS3

Fst	Avg Het	# Populations Typed
0.106	0.255	85

Synonyms: rs1799983 ;
Frequency Display Formats:

Estimated Heterozygosity:

Frequency Download:

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.
Alleles:

Allele Name	Allele Symbol	Description
Codon 298 Asp	T	5'-ctgctgcaggccccagat GATcccccagaactcttccttct-3'
Codon 298 Glu	G	5'-ctgctgcaggccccagat GAGcccccagaactcttccttct-3'

References:
- 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