ENU-induced T to C transition at base pair 141,753,719 (v38) on chromosome 7, or base pair 63,380 in the GenBank genomic region NC_000073. The mutation corresponds to residue 6,852 in the mRNA sequence NM_023566 within exon 14 of 16 total exons. The mutation results in a cysteine to arginine substitution at position 365 (C365R) in the protein. (J:254906)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count