ENU-induced T to C transition at base pair 63,384,002 (v38) on chromosome 14, or base pair 33,186 in the GenBank genomic region NC_000080. The mutation corresponds to residue 697 in the NM_007549 mRNA sequence in exon 5 of 13 total exons. The mutation results in a serine (S) to proline (P) substitution at position 93 (S93P) in the protein. (J:255004)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count