ENU-induced C to T transition at base pair 72,253,391 (v38) on chromosome 11, or base pair 13,666 in the GenBank genomic region NC_000077. The mutation corresponds to residue 899 in the mRNA sequence NM_001004148 within exon 7 of 12 total exons. The mutation results in a threonine to isoleucine substitution at position 287 (T287I) in the NaCT protein. (J:265142)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count