Variant: rs104893969 

    present in Gene: MOCS1
    present in Chromosome: 6
    Position on Chromosome: 39912289
    Alleles of this Variant: C/T

rs104893969 in MOCS1 gene and Molybdenum Cofactor Deficiency, Complementation Group A PMID 9921896 1998 Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A.

PMID 9731530 1998 Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency.

PMID 16021469 2005 Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase.

PMID 12754701 2003 Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH.