ENU-induced C to T transition at base pair 66,766,162 (v38) on chromosome 15, or base pair 95,407 in the GenBank genomic region NC_000081. The mutation corresponds to residue 6,845 in the NM_009375 mRNA sequence in exon 39 of 48 total exons. The mutation results in substitution of glutamine 2,275 to a premature stop codon (Q2275*) in the protein. (J:236668)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count