ENU-induced A to G transition at base pair 3,437,705 (v38) on chromosome 2, or base pair 13,628 in the GenBank genomic region NC_000068. The mutation corresponds to residue 581 in the mRNA sequences NM_146114 within exon 7 of 14 total exons. The mutation results in an aspartic acid to glycine substitution at position 165 (D165G) in the Artemis protein. (J:265132)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count