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

Locus Information

Name	ALFRED UID	Locus Symbol	Chromosome	Band Position
Nitric oxide synthase 3(endothelial cell)	LO000594S	NOS3	7	q36

Synonyms: eNOS ; ECNOS ;
Sites List: See Sites List
External Resources: Entrez Gene Locus Information OMIM locus description Genbank sequence UniGene gene information PharmGKB Gene Information Genopedia (HuGE Navigator)
References: See References
Locus Description: Endothelial nitric oxide (NO) synthase is a unique NO synthase isoform that is expressed constitutively by vascular endothelium both in vivo and in vitro. The gene contains 26 exons spanning approximately 21 kilobases of genomic DNA, encodes a messenger RNA of 4052 nucleotides excluding the poly A tail, and is present as a single copy in the haploid human genome.Exons ranges in size from 67 to 579 bp.
Sites within this locus ordered by their chromosomal position in the 37.3 NCBI build:

Site Name (Navigates to ALFRED description)	dbSNP rs# (Navigates to dbSNP reference page)	Chr-Position	# Populations typed
2-site haplotype		0	0
Intron 4 VNTR		0	0
rs2070744(-786T/C)	rs2070744	150321012	20
rs3918227	rs3918227	150331879	51
A(-922)G	rs1800779	150689943	4
C(-690)T	rs3918226	150690176	3
Glu298Asp	rs1799983	150696111	85

References:
- Marsden PA, Heng HH, Scherer SW, Stewart RJ, Hall AV, Shi XM, Tsui LC, Schappert KT. "Structure and chromosomal localization of the human constitutive endothelial nitric oxide synthase gene". J Biol Chem. 268:17478-88. (1993) Online citation.

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© 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