Variant: rs777251123

present in Gene: MMACHC;CCDC163 present in Chromosome: 1 Position on Chromosome: 45500415 Alleles of this Variant: T/G

rs777251123 in MMACHC;CCDC163 gene and Methylmalonic acidemia with homocystinuria PMID 19760748 2009 Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC).