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 5 HaeIIISI000227LAlcohol Dehydrogenase 1C (class I), gamma polypeptide ADH1C
FstAvg Het# Populations Typed
0.1360.374
Synonyms: rs1693425 ;
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:  An A/G SNP in exon 5 of the ADH1C gene that does not result in an amino acid substitution, but does result in a variable HaeIII site.
Ancestral Allele:  Site-Absent (nucleotide A)
Ancestral Allele Determine by: Sequence of at least one chimp, gorilla, and orangutan
Alleles:
Allele NameAllele SymbolDescription
HaeIII Site AbsentA5'-ggatgagaatgcagt A GCC aaaattgatgca-3'
HaeIII Site PresentG5'-ggatgagaatgcagt G GCC aaaattgatgca-3'

References:
- 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