ENU-induced G to C transversion at base pair 59,566,199 (v38) on chromosome 11, or base pair 24,631 in the GenBank genomic region NC_000077. The mutation corresponds to residue 3,264 in the mRNA sequence NM_145827 within exon 10 of 10 total exons. The mutation results in an arginine to proline substitution at position 1,013 (R1013P) in the protein. (J:255211)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count