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
exon 8 Ile350ValSI000228MAlcohol Dehydrogenase 1C (class I), gamma polypeptide ADH1C
FstAvg Het# Populations Typed
0.1170.352134
Synonyms: rs698 ;
Frequency on Map:    
Frequency Display Formats:     
Estimated Heterozygosity: 
Frequency Download:   
External Resources: dbSNP ss# Record   Typing Protocol Record  PharmGKB Variant Information Record  
References: See References
Polymorphism Description:  This polymorphism is due to a Isoleucine(Ile) to Valine(Val) substitution at codon 350 of ADH1C gene. This is the only site at ADH1C that has been tested in a great many studies. It shows strong linkage disequilibrium with the exon 6 Arg272Gln polymorphism. In traditional nomenclature the Isoleucine allele is given the number 1 (eg: ADH3*1) and the ancestral Valine allele is given the number 2 (eg: ADH3*2).
Ancestral Allele:  V
Ancestral Allele Determine by: Sequence of at least one chimp, gorilla, and orangutan
Alleles:
Allele NameAllele SymbolDescription
Codon 350 IleASspI site present: 5'- gcattaataacaaat A TT ttaccttttgaaa -3'
Codon 350 ValGSspI site abesent: 5'- gcattaataacaaat G TT ttaccttttgaaa -3'

References:
- Osier MV, Pakstis AJ, Kidd JR, Lee JF, Yin SJ, Ko HC, Edenberg HJ, Lu RB, and Kidd KK. "Linkage Disequilibrium at the ADH2 and ADH3 Loci and Risk of Alcoholism". Am. J. Hum. Genet. 64:1147-1157. (1999) Online citation.

- Osier MV, Pakstis AJ, Soodyall H, Comas D, Goldman D, Odunsi A, Okonofua F, Parnas J, Schulz LO, Bertranpetit J, Bonne-Tamir B, Lu RB, Kidd JR, Kidd KK. "A global perspective on genetic variation at the ADH genes reveals unusual patterns of linkage disequilibrium and diversity". Am J Hum Genet 71:84-99. (2002) Online citation.

- Osier MV. "Genetic Variation and Linkage Disequilibrium in the Human Alcohol Dehydrogenase Genes". Dissertation, Yale University (2002)

© 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