ENU-induced A to C transition at base pair 78,565,945 (v38) on chromosome 15, or base pair 6,839 in the GenBank genomic region NC_000081. The mutation corresponds to residue 332 in the mRNA sequence NM_009008 within exon 3 of 7 total exons. The mutation results in an aspartic acid (D) to alanine (A) substitution at position 65 (D65A). (J:231801)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count