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
Cys112ArgSI001123HApolipoprotein EAPOE
FstAvg Het# Populations Typed
0.0070.1733
Synonyms: rs429358 ;
Frequency on Map:    
Frequency Display Formats:     
Estimated Heterozygosity: 
Frequency Download:   
External Resources: dbSNP rs# Record  GenBank sequence Record  dbSNP rs# Record  PharmGKB Variant Information Record  
References: See References
Polymorphism Description:  This polymorphism is due to C to T subsitution causing a substitution of Arginine for Cysteine at codon 112 of mature Apolipoprotein E (at codon 130 of the initial translation product which includes a 18 aa signal peptide of the gene APOE).
Alleles:
Allele NameAllele SymbolDescription
Codon 112 ArgR5'-gcgcggacatggaggacgtg C GC ggccgcctggtgcagtac-3'
Codon 112 CysC5'-gcgcggacatggaggacgtg T GC ggccgcctggtgcagtac-3'

References:
- Hixson JE, Vernier DT. "Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI". J Lipid Res. 31:545-8. . (1990) 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