| UGT1A1 SNPs table | |||||||||
| Access UGT1A1 and common exons haplotypes table | |||||||||
| Reference sequence for the annotation: NT_005120.15 (dbSNP reference sequence) | |||||||||
| Rs | Observed | Name | mRNA1 | Protein2 | DNAg3 | Position NT_005120.15 | Nucleotide position1,4 | Nucleotide position in the promoter (based on the ATG) | Comment |
| 28900392 | A/G | g.596787G>A | 596787 | -4901 | -4901 | ||||
| 11673726 | G/T | g.596814G>T | 596814 | -4874 | -4874 | ||||
| 58069490 | C/T | g.597090C>T | 597090 | -4598 | -4598 | ||||
| 6747843 | A/G | g.597108G>A | 597108 | -4580 | -4580 | ||||
| 35754645 | -/TC | g.597341_597342del2 | 597341 | -4347 | -4347 | ||||
| 13403585 | G/T | g.597398T>G | 597398 | -4290 | -4290 | ||||
| 11675168 | A/G | g.597433G>A | 597433 | -4255 | -4255 | ||||
| 6714634 | C/T | g.597519T>C | 597519 | -4169 | -4169 | ||||
| 17874945 | C/T | g.597580C>T | 597580 | -4108 | -4108 | ||||
| 28900394 | C/G | g.597610C>G | 597610 | -4078 | -4078 | ||||
| 17863800 | C/G | g.597635C>G | 597635 | -4053 | -4053 | ||||
| 13403884 | G/T | g.597656T>G | 597656 | -4032 | -4032 | ||||
| 28899471 | C/T | g.597682T>C | 597682 | -4006 | -4006 | ||||
| 11568318 | A/C | g.598252C>A | 598252 | -3436 | -3436 | ||||
| 11568316 | C/T | g.598291T>C | 598291 | -3397 | -3397 | ||||
| 4124874 | A/C | g.598413T>G | 598413 | -3275 | -3275 | ||||
| 13404099 | A/G | g.598511A>G | 598511 | -3177 | -3177 | ||||
| 11568319 | C/G | g.598515C>G | 598515 | -3173 | -3173 | ||||
| 11568317 | A/G | g.598517A>G | 598517 | -3171 | -3171 | ||||
| 10929302 | A/G | g.598536G>A | 598536 | -3152 | -3152 | ||||
| 72988425 | A/G | g.598737A>G | 598737 | -2951 | -2951 | ||||
| 34757826 | C/G | g.598860G>C | 598860 | -2828 | -2828 | ||||
| 9711502 | C/T | g.598945T>C | 598945 | -2743 | -2743 | ||||
| 71881921 | -/CATATACATA | g.598945_598946ins10 | 598945 | -2743 | -2743 | ||||
| 9711503 | C/T | g.598951T>C | 598951 | -2737 | -2737 | ||||
| 71058576 | -/ATATAT | g.598961_598962ins6 | 598961 | -2727 | -2727 | ||||
| 66600205 | -/ATATATATATATATATATATATATATAT | g.598970_598971ins28 | 598970 | -2718 | -2718 | ||||
| 73999011 | C/G | g.598977C>G | 598977 | -2711 | -2711 | ||||
| 4399719 | G/T | g.599215T>G | 599215 | -2473 | -2473 | ||||
| 12052787 | C/T | g.599335C>T | 599335 | -2353 | -2353 | ||||
| 35815287 | C/T | g.600056C>T | 600056 | -1632 | -1632 | ||||
| 34118072 | G/T | g.600172T>G | 600172 | -1516 | -1516 | ||||
| 3755319 | G/T | g.600336A>C | 600336 | -1352 | -1352 | ||||
| 28900395 | A/G | g.600381G>A | 600381 | -1307 | -1307 | ||||
| 28899472 | C/T | g.600563C>T | 600563 | -1125 | -1125 | ||||
| 2003569 | A/G | g.600691G>A | 600691 | -997 | -997 | ||||
| 6723506 | A/G | g.600779A>G | 600779 | -909 | -909 | ||||
| 9646717 | A/G | g.600892G>A | 600892 | -796 | -796 | ||||
| 759174 | G/T | g.600999A>C | 600999 | -689 | -689 | ||||
| 34916116 | A/C | g.601044C>A | 601044 | -644 | -644 | ||||
| 35665780 | C/T | g.601052C>T | 601052 | -636 | -636 | ||||
| 35746348 | A/G | g.601204G>A | 601204 | -484 | -484 | ||||
| 887829 | A/G | g.601324C>T | 601324 | -364 | -364 | ||||
| 35071471 | A/C | g.601559C>A | 601559 | -129 | -129 | ||||
| 34547608 | C/T | g.601582T>C | 601582 | -106 | -106 | ||||
| 873478 | C/G | g.601624G>C | 601624 | -64 | -64 | ||||
| 34983651 | -/AT | g.601633_601634ins2 | 601633 | -55 | -55 | ||||
| 67574270 | -/AT | g.601634_601635del2 | 601634 | -54 | -54 | ||||
| 34815109 | -/TA | g.601634_601635ins2 | 601634 | -54 | -54 | ||||
| 67946806 | -/AT | g.601636_601637del2 | 601636 | -52 | -52 | ||||
| 72310212 | -/AT | g.601638_601639del2 | 601638 | -50 | -50 | ||||
| 5839491 | -/AT | g.601639_601640ins2 | 601639 | -49 | -49 | ||||
| 35600288 | -/AT | g.601640_601641ins2 | 601640 | -48 | -48 | ||||
| 66950903 | -/TA | g.601641_601642ins2 | 601641 | -47 | -47 | ||||
| 72538037 | -/AT | g.601642_601643ins2 | 601642 | -46 | -46 | ||||
| 72046137 | -/TA | g.601645_601646del2 | 601645 | -43 | -43 | ||||
| 72022495 | -/TA | g.601645_601646ins2 | 601645 | -43 | -43 | ||||
| 3064744 | -/TA | g.601648_601649ins2 | 601648 | -40 | -40 | ||||
| 67016785 | -/TATA | g.601649_601650ins4 | 601649 | -39 | -39 | ||||
| 72551339 | C/G | c.115C>G | p.His39Asp | g.601802C>G | 601802 | 115 | |||
| 34526305 | C/T | c.141C>T | p.Ile47Ile | g.601828C>T | 601828 | 141 | |||
| 4148323 | A/G | UGT1A1*6 | c.211G>A | p.Gly71Arg | g.601898G>A | 601898 | 211 | ||
| 72551340 | A/C | c.222C>A | p.Tyr74X | g.601909C>A | 601909 | 222 | |||
| 56059937 | C/T | c.247T>C | p.Phe83Leu | g.601934T>C | 601934 | 247 | |||
| 72551341 | A/T | c.524T>A | p.Leu175Gln | g.602211T>A | 602211 | 524 | |||
| 72551342 | C/T | c.529T>C | p.Cys177Arg | g.602216T>C | 602216 | 529 | |||
| C/T | c.571C>T | p.Ser191Phe | g.602253C>T | 571 | |||||
| 72551343 | C/T | c.625C>T | p.Arg209Try | g.602312C>T | 602312 | 625 | |||
| 35003977 | G/T | c.674T>G | p.Val225Gly | g.602361T>G | 602361 | 674 | |||
| 35350960 | A/C | c.686C>A | p.Pro229Gln | g.602373C>A | 602373 | 686 | |||
| 72551344 | G/T | c.698T>G | p.Leu233Arg | g.602385T>G | 602385 | 698 | |||
| 57307513 | C/T | c.748T>C | p.Ser250Pro | g.602435T>C | 602435 | 748 | |||
| 72551345 | C/G | c.826G>C | p.Gly276Arg | g.602513G>C | 602513 | 826 | |||
| 61764032 | A/T | c.835A>T | p.Asn279Tyr | g.602522A>T | 602522 | 835 | |||
| 35802766 | C/T | g.602611C>T | 602611 | IVS1+60 | |||||
| 34216482 | -/C | g.602621_602622insC | 602621 | IVS1+70 | |||||
| 35041092 | C/T | g.602635C>T | 602635 | IVS1+84 | |||||
| 17868341 | C/T | g.602640C>T | 602640 | IVS1+89 | |||||
| 72551346 | C/T | g.602708T>C | 602708 | IVS1+157 | |||||
| 34652311 | C/T | g.602893C>T | 602893 | IVS1+342 | |||||
| 34165552 | A/G | g.603019G>A | 603019 | IVS1+468 | |||||
| 34946247 | A/G | g.603082A>G | 603082 | IVS1+531 | |||||
| 28900396 | C/T | g.603314T>C | 603314 | IVS1+763 | |||||
| 34562642 | A/T | g.603432T>A | 603432 | IVS1+881 | |||||
| 34270252 | A/G | g.603767A>G | 603767 | IVS1+1216 | |||||
| 34681509 | -/T | g.604118delT | 604118 | IVS1+1567 | |||||
| 28946889 | G/T | g.604216G>T | 604216 | IVS1+1665 | |||||
| 17864704 | C/T | g.604926C>T | 604926 | IVS1+2375 | |||||
| 28900397 | A/T | g.605076A>T | 605076 | IVS1+2525 | |||||
| 17864705 | G/T | g.605082G>T | 605082 | IVS1+2531 | |||||
| 28900398 | G/T | g.605092T>G | 605092 | IVS1+2541 | |||||
| 6742078 | G/T | g.605393G>T | 605393 | IVS1+2842 | |||||
| 28900399 | A/G | g.605414A>G | 605414 | IVS1+2863 | |||||
| 3771342 | A/C | g.605417G>T | 605417 | IVS1+2866 | |||||
| 4148324 | G/T | g.605476T>G | 605476 | IVS1+2925 | |||||
| 17864706 | A/G | g.605614G>A | 605614 | IVS1+3063 | |||||
| 35377848 | A/G | g.605728G>A | 605728 | IVS1+3177 | |||||
| 34078324 | C/T | g.605942C>T | 605942 | IVS1+3391 | |||||
| 3771341 | A/C/T | g.605993G>A | 605993 | IVS1+3442 | |||||
| 11563252 | C/T | g.605996C>T | 605996 | IVS1+3445 | |||||
| 4148325 | C/T | g.606063C>T | 606063 | IVS1+3512 | |||||
| 4148326 | C/T | g.606216T>C | 606216 | IVS1+3665 | |||||
| 45477695 | -/AAAGGGAGGGA | g.606266_606267ins11 | 606266 | IVS1+3715 | |||||
| 62191921 | C/G | g.606268C>G | 606268 | IVS1+3717 | |||||
| 17864707 | C/G | g.606269C>G | 606269 | IVS1+3718 | |||||
| 17868342 | A/C | g.606270C>A | 606270 | IVS1+3719 | |||||
| 66600723 | -/GGAGGGA | g.606271_606272ins7 | 606271 | IVS1+3720 | |||||
| 12479045 | C/G | g.606342G>C | 606342 | IVS1+3791 | |||||
| 35915271 | A/T | g.606365A>T | 606365 | IVS1+3814 | |||||
| 2538832 | A/T | g.606409T>A | 606409 | IVS1+3858 | |||||
| 2741014 | C/T | g.606410C>T | 606410 | IVS1+3859 | |||||
| 2741015 | C/T | g.606426C>T | 606426 | IVS1+3875 | |||||
| 2741016 | G/T | g.606433T>G | 606433 | IVS1+3882 | |||||
| 2741017 | C/T | g.606482C>T | 606482 | IVS1+3931 | |||||
| 34642976 | A/T | g.606594T>A | 606594 | IVS1+4043 | |||||
| 28900400 | A/G | g.606658A>G | 606658 | IVS1+4107 | |||||
| 34942302 | A/G | g.606923G>A | 606923 | IVS1+4372 | |||||
| 4663971 | C/G | g.607006C>G | 607006 | IVS1+4455 | |||||
| 35780018 | -/AA | g.607092_607093ins2 | 607092 | IVS1+4541 | |||||
| 35978061 | -/AA | g.607111_607112ins2 | 607111 | IVS1+4560 | |||||
| 10664358 | -/TAATAA | g.607132_607133ins6 | 607132 | IVS1+4581 | |||||
| 33921236 | -/TAATAA | g.607133_607134ins6 | 607133 | IVS1+4582 | |||||
| 35640782 | G/T | g.607168G>T | 607168 | IVS1+4617 | |||||
| 929596 | C/T | g.607230A>G | 607230 | IVS1+4679 | |||||
| 2741018 | C/T | g.607360C>T | 607360 | IVS1+4809 | |||||
| 2538831 | A/C | g.607401T>G | 607401 | IVS1+4850 | |||||
| 67299519 | -/GTGGCCCGGGCTCG | g.607658_607671del14 | 607658 | IVS1+5107 | |||||
| 34353734 | C/T | g.607662C>T | 607662 | IVS1+5111 | |||||
| 4663334 | C/T | g.607678C>T | 607678 | IVS1+5127 | |||||
| 11679312 | C/T | g.607790C>T | 607790 | IVS1+5239 | |||||
| 34737611 | A/C | g.608017A>C | 608017 | IVS1+5466 | |||||
| 28900401 | G/T | g.608027T>G | 608027 | IVS1+5476 | |||||
| 71528513 | C/T | g.608171C>T | 608171 | IVS1+5620 | |||||
| 3213726 | G/T | g.608277C>A | 608277 | IVS1+5726 | |||||
| 35858210 | C/T | g.608289C>T | 608289 | IVS1+5738 | |||||
| 6708136 | C/T | g.608321C>T | 608321 | IVS1+5770 | |||||
| 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) | |||||||||