ENU-induced A to G transition at base pair 28,668,727 (v38) on chromosome 10, or base pair 401 in the GenBank genomic region NC_000076. The mutation corresponds to residue 368 in the mRNA sequence NM_178666 within exon 1 of 6 total exons. The mutation results in an isoleucine (I) to asparagine (N) substitution at position 23 (I23N) in the protein. (J:236691)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count