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, beta LO000456PHBB1111p15.5
Synonyms: beta-globin ;
Sites List: See Sites List
External Resources: Entrez Gene Locus Information   OMIM description   GenBank sequence   PharmGKB Gene Information   Genopedia (HuGE Navigator)   
References: See References
Locus Description: The beta-globin (HBB) locus determines the structure of one of the 2 types of polypeptide chains in adult hemoglobin, Hb A. The normal adult hemoglobin tetramer consists of two alpha chains and two beta chains, however, in the erythrocytes of the fetus and newborn infant, gamma chain synthesis occurs in lieu of beta chain synthesis. Mutant beta globin causes the autosomal recessive disease known as sickle cell anemia. Absence of beta chain causes beta-zero-thalassemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia.
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
rs10837628rs10837628   524440486
rs11824599rs11824599   524498450
rs1609812rs1609812   524714186
rs7946748rs7946748   524772650
AvaII rs10768683    52477915
rs11036364rs11036364   524900450
5'HinfIrs16911905   524929014
BamHI   5

References:
- Antonarakis SE, Boehm CD, Serjeant GR, Theisen CE, Dover GJ, Kazazian HH Jr. "Origin of the beta S-globin gene in blacks: the contribution of recurrent mutation or gene conversion or both". Proc Natl Acad Sci 81:853-856. (1984) Online citation.

- Forget BG. "Molecular genetics of human hemoglobin synthesis". Ann Intern Med. 91:605-616. (1979) 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