Variant: rs3741040 

    present in Gene: AMPD3
    present in Chromosome: 11
    Position on Chromosome: 10500245
    Alleles of this Variant: C/T

rs3741040 in AMPD3 gene and Erythrocyte Amp Deaminase Deficiency PMID 11139257 2001 A rare case of complete human erythrocyte AMP deaminase deficiency due to two novel missense mutations in AMPD3.

PMID 8004104 1994 A point mutation responsible for human erythrocyte AMP deaminase deficiency.

PMID 9598089 1998 Gene mutations responsible for human erythrocyte AMP deaminase deficiency in Poles.

PMID 7881427 1994 Molecular basis for human erythrocyte AMP deaminase deficiency: screening for the major point mutation and identification of other mutations.