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. 2020 May 19;20:100228. doi: 10.1016/j.jcte.2020.100228

Table 1.

The gene polymorphisms studied according to NCBI (www.ncbi.nlm.nih.gov).

Coded protein Gene Chromosome location Studied SNPs Change at DNA level Change at Amino acid level
Blood coagulation Factor V FV Chromosome 1 (1q24.2) rs 6025 (FVLeiden) G1691A (R506Q) Arg506Gln
rs1800595 (FV HR2) A4070G His1299Arg
Blood coagulation Factor II (Prothrombin) FII Chromosome 11 (11p11.2) rs1799963 G20210A N/A
5, 10 Methylene tetrahydrofolate Reductase MTHFR Chromosome 1 (1p36.22) rs1801133 C677T Ala 222 Val
rs1801131 A1298C Glu429Ala
Blood coagulation Factor XIII F XIII A1 Chromosome 6 (6p25.1) rs 5985 G103T Val 34 Leu
Plasminogen Activator Inhibitor 1 (PAI-1) Serpine1 Chromosome 7 (7q22.1) rs1799762 4G/5G
1-bp guanine deletion/insertion (4G/5G) in the promoter region
N/A
Endothelial Protein C Receptor (EPCR): EPCR (PROCR) Chromosome 20 (20q11.22)
Haplotype 1 (A1) rs 9574 G4678C N/A
Haplotype 3 (A3) rs 867186 A4600G Ser219Gly

N/A: No available data.