ENU-induced C to A transversion at base pair 100,223,014 (v38) on chromosome 13, or base pair 31,758 in the GenBank genomic region NC_000079. The mutation corresponds to residue 1,926 in the mRNA sequence NM_010870 within exon 9 of 14 total exons. The mutation results in substitution of tyrosine (Y) 571 for a premature stop codon (Y571*) in the protein. (J:234250)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count