ALFRED detailed record information
Synonyms: A385T ; rs1047781 ;
|Fst||Avg Het||# Populations Typed|
Frequency Display Formats:
External Resources: HGMD Record dbSNP rs # Record PharmGKB Variant Information Record
References: See References
Polymorphism Description: This polymorphism is due to missense mutation A -> T which results in aminoacid substitution Isoleucine to Pnenylalanine(Ile -> Phe) at codon 129 (bp position 385) of FUT2 gene.
|Allele Name||Allele Symbol||Description|
|Codon 129 Ile||A||5'-tggaggaggaataccgccac ATC ccgggggagtacgtccgc-3'|
|Codon 129 Phe||T||5'-tggaggaggaataccgccac TTC ccgggggagtacgtccgc-3'|
- Koda Y, Soejima M, Liu Y, Kimura H. "Molecular basis for secretor type alpha(1,2)-fucosyltransferase gene deficiency in a Japanese population: a fusion gene generated by unequal crossover responsible for the enzyme deficiency". Am J Hum Genet. 59:343-350. (1996) 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