ENU-induced C to A transversion at base pair 34,214,032 (v38) on chromosome 17, or base pair 9,554 in the GenBank genomic region NC_000083. The mutation corresponds to residue 1,440 in the mRNA sequence NM_011530 within exon 8 of 12 total exons. The mutation results in substitution of tyrosine 429 for a premature stop codon (Y429*) in the protein. (J:254929)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count