SNP | rsID | Location | Nucleotide Changea | Amino Acid Changeb |
---|---|---|---|---|
v01 | Promotor | −717C>A | ||
v02 | rs6768161064 | Promotor | −668G>A | |
v03 | rs2272375 | Exon1 | c.166 C>T | Leu56Leu |
v04 | rs75358992 | Intron1 | IVS1+31 G>A | |
v05 | rs3817576 | Intron1 | IVS1+170 A>G | |
v06 | rs79762569 | Intron1 | IVS1+247 A>G | |
v07 | rs73259905 | Intron1 | IVS1+343 C>T | |
v08 | rs3735689 | Intron1 | c.IVS2-26T>G | |
v09 | rs201787342 | Intron1 | c.IVS2-25 ins C | |
v10 | rs3824081 | Intron2 | IVS3-5 T>C | |
v11 | rs3735684 | Exon4 | c.541G>A | Ala181Thr |
v12 | rs201860979 | Exon4 | c.588G>A | Val196Val |
v13 | rs9655345 | Intron4 | IVS5-186 A>G | |
v14 | rs192750534 | Intron4 | IVS5-134 G>A | |
v15 | rs772177532 | Exon5 | c.768 C>G | Cys256Cys |
v16 | rs117425670 | Intron5 | IVS6-96 C>T | |
v17 | rs113795030 | Intron6 | IVS6+17 T>C | |
v18 | rs61420495 | Intron6 | IVS6+18 G>A | |
v19 | rs377096714 | Exon7 | c.1035C>T | Pro345Pro |
v20 | rs201612311 | Exon7 | c.1126G>A | Gly376Ser |
v21 | Intron7 | IVS8-188T>C | ||
v22 | rs370308301 | Exon8 | c.1236C>T | Asp412Asp |
v23 | rs78873069 | Exon9 | c.1294G>A | Val432Ile |
v24 | rs3808348 | Exon9 | c.1463C>T | Pro488Leu |
v25 | 3′UTR | c.1886G>A | ||
v26 | rs62433131 | 3′UTR | c.2208A>C |