ENU-induced G to A transition at base pair 71,858,840 (v38) on chromosome 9, or base pair 252,980 in the GenBank genomic region NC_000075. The mutation corresponds to residue 1,848 in the mRNA sequence NM_011544 within exon 17 of 21 total exons. The mutation results in a glycine to serine substitution at residue 528 (G528S) in the HEB protein. (J:271972)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count