ENU-induced A to T transversion at base pair 15,734,922 (v38) on chromosome 16, or base pair 97,480 in the GenBank genomic region NC_000082. The mutation corresponds to residue 6,244 in the mRNA sequence NM_011159 within exon 47 of 86 total exons. The mutation results in a glutamine (Q) to leucine (L) substitution at position 2074 (Q2074L) in the protein. (J:255269)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count