ENU-induced A to G transition at base pair 87,705,964 (v38) on chromosome 1, or base pair or 85,653 in the GenBank genomic region, NC_000067. The mutation corresponds to residue 2,288 in the mRNA sequence NM_010566 within exon 19 of 27 total exons. The mutation results in substitution of histidine 704 for an arginine (H704R) in the protein. (J:254907)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count