ENU-induced A to G transition at base pair 113,416,041 (v38) on chromosome 12, or base pair 284 in the GenBank genomic region NC_000078. 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 282-nucleotide exon 1 (out of 5 total exons). The next available start codon is in exon 2. (J:255203)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count