This T-to-C polymorphism at coding nucleotide 1547, found in the 101 and C3H strains, changes codon 516 from methionine to threonine (p.M516T). (J:38977)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count