ENU-induced A to T transversion at base pair 79,454,595 (v38) on chromosome 2, or base pair 2,042 in the GenBank genomic region NC_000068 encoding. The mutation corresponds to residue 540 in the NM_010894 mRNA sequence in exon 2 of 2 total exons. The mutation results in an asparagine (N) to isoleucine (I) substitution at position 148 (N148I) in the protein. (J:255210)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count