ENU-induced C to A transversion at base pair 43,412,017 (v38) on chromosome 7, or base pair 3,825 in the GenBank genomic region NC_000073. The mutation corresponds to residue 1,588 in the mRNA sequence NM_172900 within exon 9 of 12 total exons. The mutation results in an asparagine to lysine substitution at position 481 (N481K) in the Siglec-G protein. (J:265183)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count