ALFRED: allele frequency database
      The ALlele FREquency Database   
ALFRED is a resource of gene frequency data on human populations
supported by the Yale Center for Medical Informatics.
00ALFRED 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   
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   16947757478
rs12120904rs12120904   16947804275
rs970741rs970741   169480045114
rs6027rs6027   169483561114
rs6670407rs6670407   16948540075
rs2213865rs2213865   16948612875
rs2420371rs2420371   169491555114
rs12131397rs12131397   169493953116
rs9332628rs9332628   16949773178
rs9332627rs9332627   16949782076
rs9332624rs9332624   16949792675
rs9332623rs9332623   16949836075
rs6030rs6030   169498975114
rs9332618rs9332618   16950048175
rs4656687rs4656687   169505158114
rs4525rs4525   169511734114
rs4524rs4524   169511755114
rs6018rs6018   16951187876
rs2239851rs2239851   169512497114
Arg506Glnrs6025   16951904912
rs10800456rs10800456   16952009875
rs10158595rs10158595   16952036475
rs9332586rs9332586   16952068875
rs6035rs6035   169521849114
rs6033rs6033   169521853114
rs12120605rs12120605   16952255475
rs6427199rs6427199   16952353775
rs2239854rs2239854   16952580875
rs3766117rs3766117   16952785678
rs6427202rs6427202   169528830116
rs6022rs6022   16952982675
rs7545236rs7545236   16953007075
rs1894701rs1894701   16953058675
rs1894702rs1894702   16953083778
rs3766119rs3766119   16953098175
rs6678795rs6678795   16953326675
rs724509rs724509   16953374414
rs12024736rs12024736   16953591875
rs9287095rs9287095   16953846676
rs6663533rs6663533   169539348114
rs16862377rs16862377   16954761075
rs12755775rs12755775   16954771775
rs9332499rs9332499   16955109475
rs9332684rs9332684   16955153575
rs9332487rs9332487   16955479175
rs9332480rs9332480   16955644675

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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© 2019 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