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
Arg594GluSI014924U5,10-methylenetetrahydrofolate reductase (NADPH) MTHFR
FstAvg Het# Populations Typed
0.0990.13860
Synonyms: G1793A ; rs2274976 ;
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/G SNP in the coding region of MTHFR gene. This SNP results in non-synonymous substitution Arginine(CGG) -> Glutamine(CAG) at aminoacid position 594 of the gene.
Alleles:
Allele NameAllele SymbolDescription
AA5'- ctttgccctgtggattgag CAG tggggaaagctgtatgagg -3'
GG5'- ctttgccctgtggattgag CGG tggggaaagctgtatgagg -3'

References:
- Mao R, Fan Y, Chen F, Fu S. "Genetic polymorphism of MTHFR G1793A in Chinese populations". Eur J Epidemiol. (Epub ahead of print) (2008)

© 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