ENU-induced A to T transversion at base pair 78,459,427 (v38) on chromosome 15, or base pair 133,970 in the GenBank genomic region NC_000081 for the gene. The effect of the mutation at the cDNA and protein level have not examined, but the mutation is predicted to result in skipping of the 178-base pair exon 10 (out of 18 total exons), resulting in an in-frame deletion of the 42-base pair exon 6, which encodes amino acid 206-219. (J:236692)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count