| Common exons SNPs table | |||||||||||
| Access UGT1A1 and common exons haplotypes table | |||||||||||
| Reference sequence for the annotation: NT_005120.15 (dbSNP reference sequence) | |||||||||||
| Rs | Observed | mRNA1 | Protein2 | DNAg3 | Position NT_005120.15 | Exon | Nucleotide position1,4 | Nucleotide position in the promoter (based on the ATG) | Nucleotide position in the exon5 | Comment | |
| 72551347 | C/T | c.881T>C | p.Ile294Thr | g.608450T>C | 608450 | Exon 2 | 881 | 17 | |||
| 62625011 | A/G | c.923G>A | p.Gly308Glu | g.608492G>A | 608492 | Exon 2 | 923 | 59 | |||
| 17851756 | C/T | c.965T>C | p.Ile322Thr | g.608534T>C | 608534 | Exon 2 | 965 | 101 | |||
| 72551348 | A/G | c.992A>G | p.Gln331Arg | g.608561A>G | 608561 | Exon 2 | 992 | 128 | |||
| 4148327 | C/T | g.608580T>C | 608580 | IVS2+15 | |||||||
| 34650714 | C/T | g.608583C>T | 608583 | IVS2+18 | |||||||
| 35359603 | A/G | g.608654G>A | 608654 | IVS2+89 | |||||||
| 34903743 | G/T | g.608711T>G | 608711 | IVS2+146 | |||||||
| 34743975 | A/C | g.608732A>C | 608732 | IVS2+167 | |||||||
| 1018124 | C/T | g.608872A>G | 608872 | IVS2+307 | |||||||
| 2110298 | A/G | g.608950T>C | 608950 | IVS2+385 | |||||||
| 28946890 | A/C/T | g.609127T>C | 609127 | IVS2+562 | |||||||
| 35331289 | -/GT | g.609148_609149ins2 | 609148 | IVS2+583 | |||||||
| 45610531 | -/GT | g.609150_609151ins2 | 609150 | IVS2+585 | |||||||
| 34082659 | C/T | g.609163C>T | 609163 | IVS2+598 | |||||||
| 28900402 | C/T | g.609166C>T | 609166 | IVS2+601 | |||||||
| 2302538 | A/G | g.609167T>C | 609167 | IVS2+602 | |||||||
| 12471326 | C/T | g.609212T>C | 609212 | IVS2+647 | |||||||
| 35129844 | A/C | g.609214C>A | 609214 | IVS2+649 | |||||||
| 72551349 | C/T | c.1021C>T | p.Arg341X | g.609273C>T | 609273 | Exon 3 | 1021 | 25 | |||
| 72551350 | C/T | c.1069C>T | p.Gln357X | g.609321C>T | 609321 | Exon 3 | 1069 | 73 | |||
| 72551351 | A/G | c.1070A>G | p.Gln357Arg | g.609322A>G | 609322 | Exon 3 | 1070 | 74 | |||
| 61764033 | C/T | g.609347C>T | 609347 | IVS3+11 | |||||||
| 71537802 | A/C | g.609371A>C | 609371 | IVS3+35 | |||||||
| 35523971 | G/T | g.609456T>G | 609456 | IVS3+120 | |||||||
| 10445705 | A/G | g.609541G>A | 609541 | IVS3+205 | |||||||
| 28900403 | A/G | g.609558A>G | 609558 | IVS3+222 | |||||||
| 35295390 | A/G | g.609560G>A | 609560 | IVS3+224 | |||||||
| 34946978 | C/T | c.1091C>T | p.Pro364Leu | g.609626C>T | 609626 | Exon 4 | 1091 | 7 | |||
| 55750087 | C/G | c.1099C>G | p.Arg367Gly | g.609634C>G | 609634 | Exon 4 | 1099 | 15 | |||
| 72551352 | A/G | c.1102G>A | p.Ala368Thr | g.609637G>A | 609637 | Exon 4 | 1102 | 18 | |||
| 72551353 | C/T | c.1124C>T | p.Ser375Phe | g.609659C>T | 609659 | Exon 4 | 1124 | 40 | |||
| 72551354 | C/G | c.1143C>G | p.Ser381Arg | g.609678C>G | 609678 | Exon 4 | 1143 | 59 | |||
| A/C | c.1160C>A | p.Pro387His | g.602842C.A | Exon 4 | 1160 | 76 | |||||
| 72551355 | C/G | c.1201G>C | p.Ala401Pro | g.609736G>C | 609736 | Exon 4 | 1201 | 117 | |||
| A/C | c.1205A>G | p.Lys402Thr | g.602887A>G | Exon 4 | 1205 | 121 | |||||
| 36076514 | G/T | c.1231G>T | p.Val411Leu | g.609766G>T | 609766 | Exon 4 | 1231 | 147 | |||
| 11682453 | C/T | c.1279C>T | p.Arg139Try | g.609814C>T | 609814 | Exon 4 | 1279 | 195 | |||
| 72551356 | A/G | c.1282A>G | p.Lys428Glu | g.609817A>G | 609817 | Exon 4 | 1282 | 198 | |||
| 28946891 | A/G | g.609957A>G | 609957 | IVS4+118 | |||||||
| 35500060 | C/T | g.609985T>C | 609985 | IVS4+146 | |||||||
| 67025803 | -/TT | g.610003_610004del2 | 610003 | IVS4+164 | |||||||
| 6431630 | A/G | g.610140G>A | 610140 | IVS4+301 | |||||||
| 4148328 | C/T | g.610413C>T | 610413 | IVS4+574 | |||||||
| 28900404 | A/G | g.610754G>A | 610754 | IVS4+915 | |||||||
| 34358487 | -/AT | g.610833_610834del2 | 610833 | IVS4+994 | |||||||
| 34036745 | C/G | g.610865G>C | 610865 | IVS4+1026 | |||||||
| 35791110 | A/G | g.610881G>A | 610881 | IVS4+1042 | |||||||
| 36059993 | A/G | g.611000G>A | 611000 | IVS5b+37 | |||||||
| 35283790 | C/T | g.611219C>T | 611219 | IVS5b+256 | |||||||
| 71908149 | -/A | g.611265_611266insA | 611265 | IVS5b+302 | |||||||
| 72464263 | -/A | g.611275_611276insA | 611275 | IVS5b+312 | |||||||
| 35125537 | -/A | g.611277delA | 611277 | IVS5b+314 | |||||||
| 34217924 | A/G | g.611348G>A | 611348 | IVS5b+385 | |||||||
| 35883224 | A/G | g.611378G>A | 611378 | IVS5b+415 | |||||||
| 12474441 | G/T | g.611422T>G | 611422 | IVS5b+459 | |||||||
| 11563070 | A/G | g.611707G>A | 611707 | IVS5b+744 | |||||||
| 11563251 | C/T | g.612138C>T | 612138 | IVS5b+1175 | |||||||
| 36122545 | C/T | g.612204C>T | 612204 | IVS5b+1241 | |||||||
| 35475316 | A/T | g.612210A>T | 612210 | IVS5b+1247 | |||||||
| 34673611 | C/T | g.612286C>T | 612286 | IVS5b+1323 | |||||||
| 35203651 | C/T | g.612303T>C | 612303 | IVS5b+1340 | |||||||
| 34256272 | A/G | g.612415G>A | 612415 | IVS5b+1452 | |||||||
| 34168471 | C/T | g.612671T>C | 612671 | IVS5b+1708 | |||||||
| 11888492 | C/G | g.612728C>G | 612728 | IVS5b+1765 | |||||||
| 34043670 | -/T | g.613018_613019insT | 613018 | IVS5b+2055 | |||||||
| 35456228 | A/G | g.613379G>A | 613379 | IVS5b+2416 | |||||||
| 35071442 | -/G | g.613427delG | 613427 | IVS5b+2464 | |||||||
| 33979061 | A/C | g.613433A>C | 613433 | IVS5b+2470 | |||||||
| 34837096 | C/G | g.613488G>C | 613488 | IVS5b+2525 | |||||||
| 35172078 | A/T | g.613495A>T | 613495 | IVS5b+2532 | |||||||
| 28900405 | C/G | g.613506C>G | 613506 | IVS5b+2543 | |||||||
| 34216137 | C/T | g.613550C>T | 613550 | IVS5b+2587 | |||||||
| 72551357 | A/T | c.1309A>T | p.Lys437X | g.613666A>T | 613666 | Exon 5a | 1309 | 5 | |||
| 72551358 | A/C | c.1388A>C | p.Glu463Ala | g.613745A>C | 613745 | Exon 5a | 1388 | 84 | |||
| 72551359 | A/C | c.1420C>A | p.Leu474Met | g.613777C>A | 613777 | Exon 5a | 1420 | 116 | |||
| 28900406 | C/T | c.1428C>T | p.Lys190Met | g.613785C>T | 613785 | Exon 5a | 1428 | 124 | |||
| 34993780 | G/T | c.1456T>G | p.Tyr486Asp | g.613813T>G | 613813 | Exon 5a | 1456 | 152 | |||
| 72551360 | C/T | c.1463C>T | p.Ser488Phe | g.613820C>T | 613820 | Exon 5a | 1463 | 159 | |||
| 72551361 | A/T | c.1487T>A | p.Leu496X | g.613844T>A | 613844 | Exon 5a | 1487 | 183 | |||
| -/G | c.1491delG | p.Ala498X | g.603173delG | Exon 5a | 1491 | 187 | |||||
| 1042709 | C/G | c.1531G>C | p.Ala511Pro | g.613888G>C | 613888 | Exon 5a | 1531 | 227 | |||
| 1042710 | A/G | g.613962A>G | 613962 | IVS5a+3 | |||||||
| 34895241 | C/T | g.614006T>C | 614006 | IVS5a+47 | |||||||
| 10929303 | C/T | g.614170T>C | 614170 | IVS5a+211 | |||||||
| 61757316 | C/T | g.614212C>T | 614212 | IVS5a+253 | |||||||
| 1042640 | C/G | g.614298G>C | 614298 | IVS5a+339 | |||||||
| 34942353 | C/T | g.614378T>C | 614378 | IVS5a+419 | |||||||
| 8330 | C/G | g.614399G>C | 614399 | IVS5a+440 | |||||||
| 71539604 | G/T | g.614629G>T | 614629 | IVS5a+670 | |||||||
| 11562983 | A/C | g.614780C>A | 614780 | IVS5a+821 | |||||||
| 17862880 | A/C | g.614810C>A | 614810 | IVS5a+851 | |||||||
| 4148329 | C/T | g.614816C>T | 614816 | IVS5a+857 | |||||||
| 34027890 | C/T | g.614827C>T | 614827 | IVS5a+868 | |||||||
| 17862881 | A/G | g.614834A>G | 614834 | IVS5a+875 | |||||||
| 6717546 | A/G | g.614873A>G | 614873 | IVS5a+914 | |||||||
| Changes made on the last update are in red (2009-13-12). | |||||||||||
| 1Coding positions are relative to the adenine (+1) of the ATG | |||||||||||
| 2Amino acid positions are relative to the first amino acid (+1) | |||||||||||
| 3Genomic positions are relative to the start of the reference contig NT_005120.15 | |||||||||||
| 4Promoter positions are relative to adenine (+1) of the ATG; Intronic positions are relative to the end of the previous exon (+1 being the first non-coding nucleotide at the end of each exon) | |||||||||||
| 5Coding positions are relative to the first coding nucleotide of the exon. | |||||||||||