ENU-induced G to T transversion at base pair 28,761,199 (v38) on chromosome 10, or base pair 92,873 in the GenBank genomic region NC_000076. The mutation corresponds to residue 598 in the mRNA sequence NM_178666 within exon 3 of 6 total exons. The mutation results in substitution of glutamic acid 100 for a premature stop codon (E100*) in the protein. (J:254834)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count