ENU-induced A to G transition at base pair 43,409,057 (v38) on chromosome 7, or base pair 865 in the GenBank genomic region NC_000073. The mutation corresponds to residue 512 in the mRNA sequence NM_172900 within exon 3 of 12 total exons. The mutation results in an arginine to glycine substitution at position 123 (R123G) in the Siglec-G protein. (J:272021)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count