ENU-induced G to A transition at base pair 124,732,950 (v38) on chromosome 6, or base pair 5,760 in the GenBank genomic region NC_000072. The mutation corresponds to residue 205 in the mRNA sequence NM_013545 within exon 1 of 16 total exons. The mutation results in a valine to methionine substitution at position 2 (V2M) in variant 1 of the SHP1 protein.
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count