ENU-induced A to G transition at base pair 140,885,945 (v38) on chromosome 5, or base pair 114,652 in the GenBank genomic region NC_000071. The mutation corresponds to residue 2,321 in the mRNA sequence NM_175362 within exon 16 of 25 total exons. The mutation results in a glutamine (Q) to arginine (R) substitution at position 667 (Q667R) in the protein. (J:254879)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count