Variant: rs1164271240

present in Gene: MMUT present in Chromosome: 6 Position on Chromosome: 49435560 Alleles of this Variant: G/A;C

rs1164271240 in MMUT gene and Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency PMID 22727635 2012 Microarray based mutational analysis of patients with methylmalonic acidemia: identification of 10 novel mutations.