ENU-induced A to G transition at base pair 11,283,849 (v38) on chromosome 2, or base pair 111,946 in the GenBank genomic region NC_000068. The mutation corresponds to residue 1,700 in the mRNA sequence NM_008859 within exon 15 of 18 total exons. The mutation results in a threonine (T) to alanine (A) substitution at position 538 (T538A) in the protein. (J:255214)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count