ENU-induced T to C transition at base pair 88,772,723 (v38) on chromosome 5, or base pair 7,711 in the NC_000071 GenBank. The mutation corresponds to residue 544 in the mRNA sequence NM_007832 within exon 3 of 7 total exons. The mutation results in a cysteine (C) to arginine (R) substitution at position 101 (C101R) in the protein. (J:236696)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count