ENU-induced C to A transversion at base pair 13,740,513 (v38) on chromosome 13, or base pair 150,175 in the GenBank genomic region NC_000079. The mutation corresponds to residue 9,972 in the mRNA sequence NM_010748 within exon 43 of 53 total exons. The mutation results in a threonine (T) to asparagine (N) substitution at position 3,264 (T3264N). (J:231804)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count