ENU-induced A to G transition at base pair 57,402,811 (v38) on chromosome 17, or base pair 44,161 in the GenBank genomic region NC_000083. The mutation corresponds to residue 507 in the mRNA sequence NM_010130 within exon 5 of 22 total exons. The mutation results in a tyrosine (Y) to cysteine (C) substitution at position 156 (Y156C) in the protein. (J:234244)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count