ENU-induced G to A transition at base pair 25,184,941 (v38) on chromosome 19, or base pair 185,431 in the GenBank genomic region NC_000085. The effect of the mutation at the cDNA and protein levels have not examined, but the mutation is predicted to result in skipping of the 90-base pair exon 43 (out of 48 total exons), which begins after amino acid 1831 (out of 2100 total amino acids) of the protein. (J:234247)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count