ENU-induced C to A transversion at base pair 107,105,027 (v38) on chromosome 3, or base pair 14,176 in the GenBank genomic region NC_000069. The mutation corresponds to residue 1,604 in the mRNA sequence NM_008417 within exon 3 of 3 total exons. The mutation results in a serine to tyrosine substitution at position 308 (S308Y) in the KCNA2 protein. (J:274750)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count