ENU-induced T to A transversion at base pair 66,840,326 (v38) on chromosome 4, or base pair 12,516 in the GenBank genomic region NC_000070. The mutation corresponds to residue 1,636 in the mRNA sequence NM_021297 within exon 3 of 3 total exons. The mutation results in an isoleucine (I) to asparagine (N) substitution at position 452 (I452N) in the protein. (J:234239)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count