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
Asn57LysSI663394FAlcohol Dehydrogenase 1B (class I), beta polypeptide ADH1B
FstAvg Het# Populations Typed
001
Synonyms: rs1041969 ;
Frequency on Map:    
Frequency Display Formats:     
Estimated Heterozygosity: 
Frequency Download:   
External Resources: dbSNP rs# Record  
References: See References
Polymorphism Description:  This is a A/C SNP in the coding region of ADH1B gene. This SNP results in non-synonymous substitution Asparagine(AAC) -> Lysine(AAA) at aminoacid position 57 of the gene.
Alleles:
Allele NameAllele SymbolDescription
Asn (N)C5'-gaccacgtggttagtggc AA Cctggtgwccccccttcctgt -3'
Lys (K)A5'-gaccacgtggttagtggc AA Actggtgwccccccttcctg -3'

References:
- Martínez C, Galván S, Garcia-Martin E, Ramos MI, Gutiérrez-Martín Y, Agúndez JA "Variability in ethanol biodisposition in whites is modulated by polymorphisms in the ADH1B and ADH1C genes". Hepatology. 51:491-500. (2010) 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