ALFRED detailed record information
Synonyms: rs429358 ;
|Fst||Avg Het||# Populations Typed|
Frequency Display Formats:
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).
|Allele Name||Allele Symbol||Description|
|Codon 112 Arg||R||5'-gcgcggacatggaggacgtg C GC ggccgcctggtgcagtac-3'|
|Codon 112 Cys||C||5'-gcgcggacatggaggacgtg T GC ggccgcctggtgcagtac-3'|
- 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