ENU-induced A to G transition at base pair 164,088,959 (v38) on chromosome 2, or base pair 14,847 in the GenBank genomic region NC_000068 encoding Stk4. The mutation corresponds to residue 554 in the mRNA sequence NM_021420 within exon 5 of 11 total exons. he mutation results in a glutamic acid to glycine substitution at position 160 (E160G) in the STK4 protein. (J:272743)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count