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 V (proaccelerin, labile factor)LO000606MF51q23
Synonyms: FVL ; PCCF ; factor V ;
Sites List: See Sites List
External Resources: Entrez Gene Locus Information   OMIM Locus Description   Genbank sequence    Unigene   PharmGKB Gene Information   Genopedia (HuGE Navigator)   
References: See References
Locus Description: This gene encodes coagulation factor V which is an essential factor of the blood coagulation cascade.This factor circulates in plasma, and is converted to the active form by the release of the activation peptide by thrombin during coagulation.Riddell et al (1987) and Wang et al (1988, PMID: 3220473 ) mapped the F5 gene to chromosome 1 by Southern hybridization of somatic cell hybrid DNAs. By in situ hybridization, F5 was regionalized to 1q21-q25. McAlpine et al (1989) concluded that F5 lies in the 1q23 band. Defects in this gene result in either an autosomal recessive hemorrhagic diathesis or an autosomal dominant form of thrombophilia, which is known as activated protein C resistance.
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
rs6687813rs6687813   16947757469
rs12120904rs12120904   16947804250
rs970741rs970741   16948004551
rs6027rs6027   16948356151
rs6670407rs6670407   16948540050
rs2213865rs2213865   16948612850
rs2420371rs2420371   16949155551
rs12131397rs12131397   16949395370
rs9332628rs9332628   16949773169
rs9332627rs9332627   16949782051
rs9332624rs9332624   16949792650
rs9332623rs9332623   16949836050
rs6030rs6030   16949897551
rs9332618rs9332618   16950048150
rs4656687rs4656687   16950515851
rs4525rs4525   16951173451
rs4524rs4524   16951175551
rs6018rs6018   16951187851
rs2239851rs2239851   16951249751
Arg506Glnrs6025   16951904912
rs10800456rs10800456   16952009850
rs10158595rs10158595   16952036450
rs9332586rs9332586   16952068850
rs6035rs6035   16952184951
rs6033rs6033   16952185351
rs12120605rs12120605   16952255450
rs6427199rs6427199   16952353750
rs2239854rs2239854   16952580850
rs3766117rs3766117   16952785669
rs6427202rs6427202   16952883070
rs6022rs6022   16952982650
rs7545236rs7545236   16953007050
rs1894701rs1894701   16953058650
rs1894702rs1894702   16953083769
rs3766119rs3766119   16953098150
rs6678795rs6678795   16953326650
rs724509rs724509   16953374414
rs12024736rs12024736   16953591850
rs9287095rs9287095   16953846651
rs6663533rs6663533   16953934851
rs16862377rs16862377   16954761050
rs12755775rs12755775   16954771750
rs9332499rs9332499   16955109450
rs9332684rs9332684   16955153550
rs9332487rs9332487   16955479150
rs9332480rs9332480   16955644650

References:
- Wang H, Riddell DC, Guinto ER, MacGillivray RT, Hamerton JL. "Localization of the gene encoding human factor V to chromosome 1q21-25". Genomics. 2:324-8. (1988) Online citation.

- van Hylckama Vlieg A, Sandkuijl LA, Rosendaal FR, Bertina RM, Vos HL. "Candidate gene approach in association studies: would the factor V Leiden mutation have been found by this approach?". Eur J Hum Genet. 12:478-82. (2004) 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