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UGT1A4 SNPs table |
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Access UGT1A4 haplotypes table |
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Reference sequence for the annotation: NT_005120.15 (dbSNP reference
sequence) |
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Rs |
Observed |
mRNA1 |
Protein2 |
DNAg3 |
Nucleotide position1,4 |
Comment |
|
17862870 |
A/G |
|
|
g.555496G>A |
-4725 |
|
|
869462 |
C/G |
|
|
g.555516G>C |
-4705 |
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|
45600634 |
A/G |
|
|
g.555701A>G |
-4520 |
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|
4663945 |
A/G |
|
|
g.555871G>A |
-4350 |
|
|
45505392 |
A/G/T |
|
|
g.555877G>T |
-4344 |
|
|
28899184 |
A/T |
|
|
g.555955A>T |
-4266 |
|
|
28899185 |
G/T |
|
|
g.556098T>G |
-4123 |
|
|
12477216 |
C/T |
|
|
g.556421C>T |
-3800 |
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|
35623965 |
-/AT |
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g.556774_556775ins2 |
-3447 |
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|
72084011 |
-/AT |
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g.556775_556776ins2 |
-3446 |
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|
6749496 |
C/T |
|
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g.557040T>C |
-3181 |
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|
17862871 |
C/T |
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|
g.557128C>T |
-3093 |
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|
28898603 |
C/T |
|
|
g.557459T>C |
-2762 |
|
|
17868334 |
A/G |
|
|
g.557571A>G |
-2650 |
|
|
17863791 |
C/T |
|
|
g.557638T>C |
-2583 |
|
|
28948390 |
C/G |
|
|
g.557653C>G |
-2568 |
|
|
17868335 |
A/C |
|
|
g.557737C>A |
-2484 |
|
|
17863792 |
A/G |
|
|
g.557880G>A |
-2341 |
|
|
17864696 |
A/C |
|
|
g.557948A>C |
-2273 |
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|
17874943 |
A/G |
|
|
g.557993A>G |
-2228 |
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|
6744284 |
C/T |
|
|
g.558051C>T |
-2170 |
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|
34344862 |
-/C |
|
|
g.558070_558071insC |
-2151 |
|
|
28898604 |
A/G |
|
|
g.558131A>G |
-2090 |
|
|
28898605 |
A/G |
|
|
g.558248A>G |
-1973 |
|
|
1875263 |
C/T |
|
|
g.558376C>T |
-1845 |
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|
28898606 |
A/G |
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|
g.558397G>A |
-1824 |
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|
3806595 |
A/T |
|
|
g.558472T>A |
-1749 |
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|
28898607 |
A/G |
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|
g.558639G>A |
-1582 |
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|
3806594 |
A/G |
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g.558644T>C |
-1577 |
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|
3806593 |
C/T |
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|
g.558673A>G |
-1548 |
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|
3806592 |
A/G |
|
|
g.558690C>T |
-1531 |
|
|
11676072 |
A/G |
|
|
g.558737A>G |
-1484 |
|
|
3806591 |
A/G |
|
|
g.558953T>C |
-1268 |
|
|
869283 |
A/G |
|
|
g.559041G>A |
-1180 |
|
|
28898608 |
A/G |
|
|
g.559410G>A |
-811 |
|
|
45569333 |
A/T |
|
|
g.559551T>A |
-670 |
|
|
28898609 |
C/G |
|
|
g.559570C>G |
-651 |
|
|
1846780 |
G/T |
|
|
g.559726G>T |
-495 |
|
|
3732221 |
A/G |
|
|
g.559764C>T |
-457 |
|
|
3732220 |
C/T |
|
|
g.559802G>A |
-419 |
|
|
3732219 |
A/G |
|
|
g.560002C>T |
-219 |
|
|
|
G/T |
|
|
g.560004G>T |
-217 |
|
|
45454101 |
A/G |
|
|
g.560017G>A |
-204 |
|
|
3732218 |
C/T |
|
|
g.560058G>A |
-163 |
|
|
|
A/G |
|
|
g.560185G>A |
-36 |
|
|
72551336 |
A/G |
c.17A>G |
p.Gln6Arg |
g.560237A>G |
17 |
|
|
|
A/G |
c.30G>A |
p.Pro10Pro |
g.560250G>A |
30 |
|
|
3892221 |
C/T |
c.31C>T |
p.Arg11Try |
g.560251C>T |
31 |
|
|
62191899 |
A/G |
c.42A>G |
p.Thr42Thr |
g.560262A>G |
42 |
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|
6755571 |
A/C |
c.70C>A |
p.Pro24Thr |
g.560290C>A |
70 |
|
|
|
-/A |
c.127delA |
p.43fxX22 |
g.560347delA |
127 |
|
|
2011425 |
G/T |
c.142T>G |
p.Leu48Val |
g.560362T>G |
142 |
|
|
58554624 |
G/T |
c.142T>G |
p.Leu48Val |
g.560362T>G |
142 |
|
|
45510694 |
C/G |
c.150G>C |
p.Glu50Asp |
g.560370G>C |
150 |
|
|
45571233 |
A/C |
c.165C>A |
p.Gly55Gly |
g.560385C>A |
165 |
|
|
|
-/G |
c.175delG |
p.59fsX6 |
g.560395delG |
175 |
|
|
45621441 |
C/T |
c.202C>T |
p.His68Tyr |
g.560422C>T |
202 |
|
|
|
C/T |
c.271C>T |
p.Arg91Cys |
g.560491C>T |
271 |
|
|
|
A/G |
c.325A>G |
p.Arg109Gly |
g.560545A>G |
325 |
|
|
28898610 |
C/T |
c.339T>C |
p.Ser113Ser |
g.560559T>C |
339 |
|
|
|
C/T |
c.357T>C |
p.Asn119Asn |
g.560577T>C |
357 |
|
|
72551337 |
C/T |
c.395T>C |
p.Leu132Pro |
g.560615T>C |
395 |
|
|
12468274 |
C/T |
c.448T>C |
p.Leu150Leu |
g.560668T>C |
448 |
|
|
2011404 |
C/T |
c.471T>C |
p.Cys157Cys |
g.560691T>C |
471 |
|
|
45467894 |
A/G |
c.477G>A |
p.Ala159Ala |
g.560697G>A |
477 |
|
|
45516494 |
A/G |
c.483G>A |
p.Leu161Leu |
g.560703G>A |
483 |
|
|
45540231 |
A/T |
c.526A>T |
p.Ile176Phe |
g.560746A>T |
526 |
|
|
3732217 |
C/T |
c.804G>A |
p.Pro268Pro |
g.561024G>A |
804 |
|
|
|
G/T |
|
|
g.561088G>T |
IVS+1 |
|
|
2011219 |
C/T |
|
|
g.561130C>T |
IVS1+43 |
|
|
|
A/G |
|
|
g.561185A>G |
IVS1+98 |
|
|
|
G/T |
|
|
g.561188G>T |
IVS1+101 |
|
|
28898611 |
C/G |
|
|
g.561280G>C |
IVS1+193 |
|
|
871514 |
A/G |
|
|
g.561283T>C |
IVS1+196 |
|
|
904855 |
C/G |
|
|
g.561330G>C |
IVS1+243 |
|
|
28898612 |
A/G |
|
|
g.561344A>G |
IVS1+257 |
|
|
904856 |
A/G |
|
|
g.561401A>G |
IVS1+314 |
|
|
13401281 |
G/T |
|
|
g.561433T>G |
IVS1+346 |
|
|
12466779 |
C/T |
|
|
g.561448C>T |
IVS1+361 |
|
|
12463641 |
C/G |
|
|
g.561469G>C |
IVS1+382 |
|
|
12468356 |
A/G |
|
|
g.561501A>G |
IVS1+414 |
|
|
61612736 |
A/G |
|
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g.561622A>G |
IVS1+535 |
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|
28898613 |
A/G |
|
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g.561831G>A |
IVS1+744 |
|
|
12468543 |
A/G |
|
|
g.561993A>G |
IVS1+906 |
|
|
12463910 |
A/G |
|
|
g.562145G>A |
IVS1+1058 |
|
|
62191900 |
A/T |
|
|
g.562270A>T |
IVS1+1183 |
|
|
71398798 |
-/TT |
|
|
g.562271_562272ins2 |
IVS1+1184 |
|
|
71694891 |
-/TT |
|
|
g.562272_562273ins2 |
IVS1+1185 |
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|
72356620 |
-/TTT |
|
|
g.562281_562282ins3 |
IVS1+1194 |
|
|
72466079 |
-/TT |
|
|
g.562282_562283ins2 |
IVS1+1195 |
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|
72160285 |
-/TT |
|
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g.562283_562284ins2 |
IVS1+1196 |
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|
60621337 |
-/T |
|
|
g.562290delT |
IVS1+1203 |
|
|
71058575 |
-/TT |
|
|
g.562290_562291ins2 |
IVS1+1203 |
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|
71423610 |
A/G |
|
|
g.562295G>A |
IVS1+1208 |
|
|
28899186 |
G/T |
|
|
g.562339G>T |
IVS1+1252 |
|
|
28898614 |
A/C |
|
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g.562580C>A |
IVS1+1493 |
|
|
10929293 |
A/T |
|
|
g.562940A>T |
IVS1+1853 |
|
|
7597496 |
A/G |
|
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g.563197A>G |
IVS1+2110 |
|
|
12475934 |
A/G |
|
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g.563257G>A |
IVS1+2170 |
|
|
58524075 |
A/G |
|
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g.563365A>G |
IVS1+2278 |
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62191901 |
G/T |
|
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g.563468G>T |
IVS1+2381 |
|
|
12479208 |
C/T |
|
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g.563654C>T |
IVS1+2567 |
|
|
28899187 |
A/T |
|
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g.563721T>A |
IVS1+2634 |
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|
28898615 |
C/T |
|
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g.563761T>C |
IVS1+2674 |
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|
72231748 |
-/TT |
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g.564246_564247ins2 |
IVS1+3159 |
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61550889 |
-/TT |
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g.564259_564260ins2 |
IVS1+3172 |
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|
11677089 |
A/T |
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g.564601A>T |
IVS1+3514 |
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6760025 |
C/T |
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g.564675T>C |
IVS1+3588 |
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|
6750992 |
A/C |
|
|
g.564884C>A |
IVS1+3797 |
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1Coding
positions are relative to the adenine (+1) of the ATG |
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2Amino acid
positions are relative to the first amino acid (+1) |
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3Genomic
positions are relative to the start of the reference contig NT_005120.15 |
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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) |
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