ENU-induced G to A transition at base pair 15,759,605 (v38) on chromosome 16, or base pair 122,255 in the GenBank genomic region NC_000082. The mutation corresponds to residue 7,137 in the mRNA sequence NM_011159 within exon 53 of 86 total exons. The mutation results in an aspartic acid (D) to asparagine (N) substitution at position 2,372 (D2372N) in the protein. (J:255223)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count