ENU-induced C to T transition at base pair 125,312,794 on chromosome 6, corresponding to base pair 1,077 in GenBank genomic region NC_000072. The mutation corresponds to residue 636 in the mRNA sequence NM_010736 within exon 4 of 10 total exons. The mutation results in an arginine to tryptophan substitution at position 146 (R146W) in the protein. (J:254823)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count