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
Coagulation factor II (thrombin)LO000605LF211p11-q12
Synonyms: PT ;
Sites List: See Sites List
External Resources: Entrez Gene Locus Information   OMIM Locus Information   Genbank mRNA sequence   Genbank Genomic sequence    Unigene   PharmGKB Gene Information   Genopedia (HuGE Navigator)   
References: See References
Locus Description: Prothrombin is the precursor of the serine protease thrombin, a key enzyme in the processes of homeostasis and thrombosis.The gene is 21 kb long localized on chromosome 11, position 11p11-q12 (Royle et al. (1987) by analysis of a panel of somatic cell hybrid DNAs and by in situ hybridization.The gene is organized in 14 exons separated by 13 introns with the 5¿ and 3¿ untranslated region. The exons range in size from 25 to 315 base pairs, while the introns range from 84 to 9447 base pairs. All the intron splice junctions are consistent with sequences found in other eukaryotic genes, except for the presence of GC rather than GT on the 5' end of intervening sequence (PMID: 2825773). Mutations in F2 leads to various forms of thrombosis and dysprothrombinemia.
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
rs5896rs5896   4674500362
rs3136455rs3136455   4674568250
rs3136456rs3136456   4674586150
G20210Ars1799963   4676105510

References:
- Degen SJ, Davie EW "Nucleotide sequence of the gene for human prothrombin". Biochemistry 26:6165-77. (1987) 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