ENU-induced A to C transversion at base pair 34,732,371 (v38) on chromosome 11, or base pair 51,539 in the GenBank genomic region NC_000077 for Dock2. The mutation corresponds to residue 276 in the mRNA sequence NM_178666 within exon 4 of 52 total exons. The mutation results in a histidine to proline substitution at position 65 (H65P) in the DOCK2 protein. (J:272404)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count