ENU-induced C to A transversion at base pair 52,153,923 (v38) on chromosome 1, or base pair 34,486 in the GenBank genomic region NC_000067. The mutation corresponds to residue 2,270 in the mRNA sequence NM_001205313 within exon 22 of 25 total exons. The mutation results in substitution of tyrosine 651 for a premature stop codon (Y651*) in the protein. (J:254835)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count