ALFRED detailed record information
Synonyms: rs1801131 ; A1298C ;
|Fst||Avg Het||# Populations Typed|
Frequency Display Formats:
External Resources: dbSNP rs # Record PharmGKB Variant Information Record
References: See References
Polymorphism Description: This is a A/C SNP which results in non-synonymous change Glutamic acid (GAA)-> Alanine (GCA) at aminoacid position 429 in exon 8 of the gene. This change from A -> C alters MboII resriction site.
|Allele Name||Allele Symbol||Description|
|Ala||C||5' - gaggagctgaccagtgaa G C A agtgtctttgaagtctttg - 3'|
|Glu||A||5' - gaggagctgaccagtgaa G A A agtgtctttgaagtctttg - 3'|
- Coppede F, Marini G, Bargagna S, Stuppia L, Minichilli F, Fontana I, Colognato R, Astrea G, Palka G, Migliore L "Folate gene polymorphisms and the risk of Down syndrome pregnancies in young Italian women". Am J Med Genet A. 140:1083-91. (2006) 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