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

NameALFRED UIDLocus SymbolChromosomeBand Position
Hemoglobin, epsilon 1LO000601HHBE111p15.5
Synonyms:
Sites List: See Sites List
External Resources: GenBank sequence   OMIM locus description   PharmGKB Gene Information   Entrez Gene Locus Information   Genopedia (HuGE Navigator)   
References: See References
Locus Description: One of five beta-like globin genes are found on chromosome 11, occuring near the 5' end of the 45 kb cluster. Anti-sickling properties of HBE both in vitro as well as in vivo suggest that it could be therapeutically beneficial to adults with sickle phenotypes.
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-PositionStatus# Populations
typed
HincII site, 5' to HBE1rs3834466   529156322

References:
- Antonarakis SE, Boehm CD, Giardina PJ, Kazazian HH Jr. "Nonrandom association of polymorphic restriction sites in the beta-globin gene cluster". Proc Natl Acad Sci 79:137-41. (1982) Online citation.

- He Z, Russell JE. "A human embryonic hemoglobin inhibits Hb S polymerization in vitro and restores a normal phenotype to mouse models of sickle cell disease". Proc Natl Acad Sci 99:10635-10640. (2002) 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