ENU-induced A to G transition at base pair 101,186,764 (v38) on chromosome 11, or base pair 12,116 in the GenBank genomic region NC_000077. The mutation corresponds to residue 3,392 in the mRNA sequence NM_016782 within exon 19 of 24 total exons. The mutation results in a glutamic acid (E) to glycine (G) substitution at position 1,084 (E1084G) in the protein. (J:255017)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count