ENU-induced A to T transversion at base pair 43,408,802 (v38) on chromosome 7, or base pair 610 in the GenBank genomic region NC_000073. The mutation corresponds to residue 257 in the mRNA sequence NM_172900 within exon 3 of 12 total exons. The mutation results in an isoleucine to phenylalanine substitution at position 38 (I38F) in the Siglec-G protein. (J:265179)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count