db SNP ID | Chromosome location | Allele | Location | Substitution type | Molecular consequence | Amino-acid change |
---|---|---|---|---|---|---|
rs2293275 | Chr2:48,694,236 (GRCh38) | A > G | Exon 10 | Non-synonymous | Missense | p.Asn312Ser |
rs12470652 | Chr2:48,694,299 (GRCh38) | T > C | Exon 10 | Non-synonymous | Missense | p.Asn291Ser |