ENU-induced T to C transition at base pair 79,724,611 (v38) on chromosome 10, or base pair 7,978 in the GenBank genomic region NC_000076 encoding Hcn2. The mutation corresponds to residue 810 in the mRNA sequence NM_178666 within exon 2 of 8 total exons. The mutation results in a tyrosine to histidine substitution at position 259 (Y259H) in the HCN2 protein. (J:272834)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count