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
Glu429AlaSI003687Y5,10-methylenetetrahydrofolate reductase (NADPH) MTHFR
FstAvg Het# Populations Typed
0.0780.38343
Synonyms: rs1801131 ; A1298C ;
Frequency on Map:    
Frequency Display Formats:     
Estimated Heterozygosity: 
Frequency Download:   
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.
Alleles:
Allele NameAllele SymbolDescription
AlaC5' - gaggagctgaccagtgaa G C A agtgtctttgaagtctttg - 3'
GluA5' - gaggagctgaccagtgaa G A A agtgtctttgaagtctttg - 3'

References:
- 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