ENU-induced T to C transition at base pair 15,719,433 (v38) on chromosome 16, or base pair 81,991 in the GenBank genomic region NC_000082. The mutation corresponds to residue 5,170 in the mRNA sequence NM_011159 within exon 39 of 86 total exons. The mutation results in a valine (V) to alanine (A) substitution at position 1716 (V1716A) in the protein. (J:255268)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count