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

Polymorphism Information

NameALFRED UIDLocus NameLocus Symbol
Trp143TermSI001241IFucosyltransferase 2 (secretor status included)FUT2
FstAvg Het# Populations Typed
0.4160.05518
Synonyms: G428A ; rs601338 ;
Frequency on Map:    
Frequency Display Formats:     
Estimated Heterozygosity: 
Frequency Download:   
External Resources:  HGMD Record  dbSNP rs # Record  PharmGKB Variant Information Record  
References: See References
Polymorphism Description:  This polymorphism is due to a nonsense mutation G ->A which results in Trp -> stop at codon 143 (bp428) of FUT2 gene.
Alleles:
Allele NameAllele SymbolDescription
Codon 143 TermA5'-caccggctacccctgctcc TAG accttctaccaccacctcc-3'
Codon 143 TrpG5'-caccggctacccctgctcc TGG accttctaccaccacctcc-3'

References:
- Kelly RJ, Rouquier S, Giorgi D, Lennon GG, Lowe JB. "Sequence and expression of a candidate for the human Secretor blood group alpha(1,2)fucosyltransferase gene (FUT2). Homozygosity for an enzyme-inactivating nonsense mutation commonly correlates with the non-secretor phenotype". J Biol Chem. 270:4640-4649. (1995) Online citation.

© 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