ENU-induced G to T transversion at base pair 119,337,823 (v38) on chromosome 9, or base pair 2,218 in the GenBank genomic region NC_000075. The mutation corresponds to residue 748 in the mRNA sequence NM_010851 within exon 4 of 6 total exons. The mutation results in a valine (V) to phenylalanine (F) substitution at position 223 (V223F) in the protein. (J:254917)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count