5,10-methylenetetrahydrofolate reductase (NADPH)

  • Product Reviews (0)
  • Citations (2)

General Description

Research indicates that genetic variations are key for understanding the genetic basis of complex traits and diseases. Variants can influence phenotypes, the susceptibility of an individual to disease, drug response and human genome evolution. Many SNPs have been associated with common disorders such as diabetes, obesity, and cardiovascular diseases. Further research into identifying the risk factors and understanding the biology of risk variants would enable a more complete view of these conditions and lead to improved disease treatment and prevention.


The MTHFR C677T mutation at nucleotide 677, which substitutes valine for an alanine at amino acid 222, is associated with reduced enzyme activity and elevated total homocysteine levels in serum or plasma. The MTHFR A1298C mutation, which substitutes a glutamate for an alanine at amino acid 429, is also associated with increased homocysteine and lowered plasma folate levels when present in combination with the C677T mutation.

Target Disease/Application

5,10-methylenetetrahydrofolate reductase (NADPH)

Assay ID Clinical Name Gene Symbol Gene Name dbSNP ID  
C___1202883_20 MTHFR C677T MTHFR 5,10-methylenetetrahydrofolate reductase (NADPH) rs1801133
C____850486_20 MTHFR A1298C MTHFR 5,10-methylenetetrahydrofolate reductase (NADPH) rs1801131


General Specifications

# of assays: 2
Technology: TaqMan® Assays
Scale: Available in multiple scales
Intended Use: Research Use Only

Contents and Storage

-20° C


Citations & References (2)

  • Pharmacogenetic relevance of MTHFR polymorphisms.

Toffoli G, De Mattia E.
Pharmacogenomics. (2008) 9:1195-206.
  • C677T and A1298C MTHFR polymorphisms, a challenge for antifolate and fluoropyrimidine-based therapy personalisation.

De Mattia E, Toffoli G.
Eur J Cancer. (2009) 45:1333-51