ENU-induced T to C transition at base pair 78,173,059 (v38) on chromosome 11, or base pair 3,641 in the GenBank genomic region NC_000077. The mutation corresponds to residue 179 in the mRNA sequence NM_080849 within exon 2 of 15 total exons. The mutation results in a methionine to threonine substitution at position 40 (M40T) in the NEK8 protein. (J:267544)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count