The MTHFR gene sits on chromosome 1
MTHFR C677T =
a cytosine is changed to a thymine at nucleotide 677
Also called Ala222Val = MTHFR A222V – amino acid change from alanine to valine (This causes alanine to switch to valine)
Rs 1801133 – Snp ID
MTHFR A1298C =
at nucleotide 1298, the adenine changes to a cytosine causing glutamate to switch to alanine
Also called Glu429Ala = MTHFR E429A – amino acid change from glutamic acid to alanine (This causes glutamate to switch to alanine)
Rs 1801131 – Snp ID
Other MTHFR Snps
- MTHFR 03 P39P
- MTHFR A*372C
- A1572G
- MTHFR A4117C
- MTHFR C-137T
- C10318T
- MTHFR C24909T
- G1793A (R594Q)
- MTHFR G18861A
