ENU-induced A to G transition at base pair 98,234,266 (v38) on chromosome 12, or base pair 25,198 in the GenBank genomic region NC_000078. The mutation corresponds to residue 1,014 in the NM_008079 mRNA sequence in exon 8 of 17 total exons. The mutation results in an asparagine (N) to serine (S) substitution at position 295 (N295S) in the protein. (J:255205)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count