ENU-induced T to C transition at base pair 41,327,909 (v38) on chromosome 19, or base pair 57,162 in the GenBank genomic region NC_000085. The mutation corresponds to residue 1,014 in the NM_031376.3 mRNA sequence in exon 6 of 17 total exons. The mutation results in a serine (S) to proline (P) substitution at position 305 (S305P) in the protein. (J:255271)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count