ENU-induced A to T transversion at base pair 20,530,948 (v38) on chromosome 14, or base pair 18,303 in the GenBank genomic region NC_000080. The mutation corresponds to residue 539 in the mRNA sequence NM_008914 within exon 3 of 14 total exons. The mutation results in an isoleucine (I) to lysine (I) substitution at position 136 (I136K) in the encoded protein. (J:236671)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count