ENU-induced A to G transition at base pair 122,561,185 (v38) on chromosome 6, or base pair 7,377 in the GenBank genomic region NC_000072 encoding Aicda. The mutation corresponds to residue 394 in the mRNA sequence NM_009645 within exon 3 of 5 total exons. The mutation results in an asparagine to aspartic acid substitution at residue 101 (N101D) in the AID protein. (J:265156)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count