ENU-induced A to G transition at base pair 78,565,454 (v38) on chromosome 15, or base pair 7,330 in the GenBank genomic region NC_000081 encoding the gene. The mutation corresponds to residue 413 in the mRNA sequence NM_009008 within exon 4 of 7 total exons. The mutation results in an asparagine to serine substitution at position 92 (N92S) in the protein. (J:255273)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count