ENU-induced A to G transition at base pair 46,560,779 (v38) on chromosome 18, or base pair 13,755 in the GenBank genomic region NC_000084. The mutation corresponds to residue 716 in the mRNA sequence NM_173394 within exon 3 of 3 total exons. The mutation results in an isoleucine to methionine substitution at position 80 (I80M) in the protein. (J:254908)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count