ENU-induced A to G transition at base pair 34,294,286 (v38) on chromosome 11, or base pair 489,624 in the GenBank genomic region NC_000077 for Dock2. The mutation corresponds to residue 3,225 in the mRNA sequence NM_178666 within exon 31 of 52 total exons. The mutation results in a histidine to arginine substitution at position 1,048 (H1048R) in the DOCK2 protein. (J:272406)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count