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| UGT2B28 SNPs table |
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| Access UGT2B28 haplotypes
table |
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| Reference sequence for the annotation: NT_077444.3
(dbSNP reference sequence) |
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| Rs |
Observed |
mRNA1 |
Protein2 |
DNAg3 |
Exon |
Nucleotide position1,4 |
Comment |
|
|
| 1318875 |
C/T |
|
|
g.80568T>C |
|
NO |
|
|
|
| 33966513 |
-/A |
|
|
g.81144delA |
|
NO |
|
|
|
| 4694711 |
C/T |
|
|
g.81446C>T |
|
NO |
|
|
|
| 9991645 |
A/G |
|
|
g.803443A>G |
|
-1924 |
|
|
|
| 10023367 |
C/G |
|
|
g.803578G>C |
|
-1789 |
|
|
|
| 7657045 |
A/G |
|
|
g.803769A>G |
|
-1598 |
|
|
|
| 7657406 |
A/C |
|
|
g.803907A>C |
|
-1460 |
|
|
|
| 7681187 |
A/G |
|
|
g.804089G>A |
|
-1278 |
|
|
|
| 35680160 |
-/T |
|
|
g.804857delT |
|
-510 |
|
|
|
| 13139691 |
A/G |
c.12G>A |
p.Lys4Lys |
g.805378G>A |
Exon 1 |
12 |
|
|
|
| 7689398 |
A/G |
c.486G>A |
p.Ala162Ala |
g.805852G>A |
Exon 1 |
486 |
|
|
|
| 72551401 |
C/G |
c.501G>C |
p.Pro167Pro |
g.805867G>C |
Exon 1 |
501 |
|
|
|
| 71833609 |
-/T |
|
|
g.806492_806493insT |
|
IVS1+405 |
|
|
|
| 57148670 |
-/T |
|
|
g.806517_806518insT |
|
IVS1+430 |
|
|
|
| 684034 |
A/T |
|
|
g.806817T>A |
|
IVS1+730 |
|
|
|
| 999782 |
C/T |
|
|
g.806935C>T |
|
IVS1+848 |
|
|
|
| 4100604 |
C/T |
|
|
g.807978A>G |
|
IVS2+450 |
|
|
|
| 4100603 |
C/T |
|
|
g.808057A>G |
|
IVS2+529 |
|
|
|
| 4100602 |
A/T |
|
|
g.808112A>T |
|
IVS2+584 |
|
|
|
| 13146763 |
C/T |
|
|
g.808359T>C |
|
IVS2+831 |
|
|
|
| 4597901 |
C/T |
|
|
g.808578A>G |
|
IVS2+1050 |
|
|
|
| 4295327 |
A/G |
|
|
g.808751C>T |
|
IVS2+1223 |
|
|
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| 4495113 |
C/T |
|
|
g.808972A>G |
|
IVS2+1444 |
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|
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| 35191912 |
-/T |
|
|
g.809166delT |
|
IVS2+1638 |
|
|
|
| 7686786 |
A/C |
|
|
g.809467C>A |
|
IVS2+1939 |
|
|
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| 1847469 |
A/T |
|
|
g.809882T>A |
|
IVS2+2354 |
|
|
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| 13116501 |
A/C |
|
|
g.810346A>C |
|
IVS2+2818 |
|
|
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| 4450998 |
A/G |
|
|
g.810367T>C |
|
IVS2+2839 |
|
|
|
| 5859170 |
-/ACA |
|
|
g.810388_810389ins3 |
|
IVS2+2860 |
|
|
|
| 35925451 |
-/ACA |
|
|
g.810389_810390ins3 |
|
IVS2+2861 |
|
|
|
| 35437714 |
-/ACA |
|
|
g.810394_810395ins3 |
|
IVS2+2866 |
|
|
|
| 41292339 |
G/T |
|
|
g.811550G>T |
|
IVS2+4022 |
|
|
|
| 41292341 |
A/T |
c.900T>A |
p.Gly300Gly |
g.811647T>A |
Exon 3 |
900 |
|
|
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| 4386668 |
C/G |
|
|
g.811833C>G |
|
IVS3+84 |
|
|
|
| 11710210 |
C/T |
|
|
g.811958T>C |
|
IVS3+209 |
|
|
|
| 3901337 |
A/T |
|
|
g.812550T>A |
|
IVS3+801 |
|
|
|
| 13107778 |
A/G |
|
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g.813325G>A |
|
IVS3+1576 |
|
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| 1313888 |
A/G |
|
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g.813523A>G |
|
IVS3+1774 |
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| 13108235 |
A/G |
|
|
g.813577G>A |
|
IVS3+1828 |
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|
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| 71007817 |
C/T |
|
|
g.813689T>C |
|
IVS3+1940 |
|
|
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| 4694712 |
C/T |
|
|
g.814781C>T |
|
IVS4+163 |
|
|
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| 4694713 |
A/T |
|
|
g.814798T>A |
|
IVS4+180 |
|
|
|
| 12376412 |
A/C |
|
|
g.815073C>A |
|
IVS4+455 |
|
|
|
| 743589 |
C/T |
|
|
g.815168T>C |
|
IVS4+550 |
|
|
|
| 55836077 |
C/T |
|
|
g.815235C>T |
|
IVS4+617 |
|
|
|
| 4235125 |
A/G |
|
|
g.815274T>C |
|
IVS4+656 |
|
|
|
| 4235110 |
C/T |
|
|
g.815294A>G |
|
IVS4+676 |
|
|
|
| 4235127 |
A/T |
c.1094T>A |
p.Leu365His |
g.815461T>A |
Exon 5 |
1094 |
|
|
|
| 10013145 |
A/G |
c.1173A>G |
p.Val391Val |
g.815540A>G |
Exon 5 |
1173 |
|
|
|
| 10000077 |
A/G |
|
|
g.815883G>A |
|
IVS5+206 |
|
|
|
| 10002503 |
A/G |
|
|
g.816152G>A |
|
IVS5+475 |
|
|
|
| 434582 |
C/T |
|
|
g.816255A>G |
|
IVS5+578 |
|
|
|
| 10011666 |
A/C |
|
|
g.816379C>A |
|
IVS5+702 |
|
|
|
| 35059123 |
-/T |
|
|
g.816605_816606insT |
|
IVS5+928 |
|
|
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| 3557169 |
G/T |
|
|
g.816607G>T |
|
IVS5+930 |
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|
|
| 4569811 |
G/T |
|
|
g.817325C>A |
|
IVS5+1648 |
|
|
|
| 4141173 |
A/G |
|
|
g.817783C>T |
|
IVS5+2106 |
|
|
|
| 10008843 |
G/T |
|
|
g.818080G>T |
|
IVS5+2403 |
|
|
|
| 71041849 |
A/G |
|
|
g.818138A>G |
|
IVS5+2461 |
|
|
|
| 213439 |
A/C/G |
|
|
g.818535T>C |
|
IVS5+2858 |
|
|
|
| 67501370 |
-/T |
|
|
g.818611_818612insT |
|
IVS5+2934 |
|
|
|
| 5004183 |
A/T |
|
|
g.818732T>A |
|
IVS5+3055 |
|
|
|
| 5004182 |
A/T |
|
|
g.818741A>T |
|
IVS5+3064 |
|
|
|
| 5004181 |
A/T |
|
|
g.818774T>A |
|
IVS5+3097 |
|
|
|
| 5004180 |
C/T |
|
|
g.818779A>G |
|
IVS5+3102 |
|
|
|
| 5004179 |
C/T |
|
|
g.818796A>G |
|
IVS5+3119 |
|
|
|
| 4568294 |
A/G |
|
|
g.818813C>T |
|
IVS5+3136 |
|
|
|
| 5004178 |
A/C |
|
|
g.818932G>T |
|
IVS5+3255 |
|
|
|
| 5004177 |
C/T |
|
|
g.819006A>G |
|
IVS5+3329 |
|
|
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| 5004176 |
A/G |
|
|
g.819054T>C |
|
IVS5+3377 |
|
|
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| 4515214 |
A/G |
|
|
g.819093C>T |
|
IVS5+3416 |
|
|
|
| 5004175 |
C/G |
|
|
g.819115G>C |
|
IVS5+3438 |
|
|
|
| 6827801 |
C/T |
|
|
g.819125C>T |
|
IVS5+3448 |
|
|
|
| 41292343 |
A/T |
|
|
g.819327T>A |
|
IVS5+3650 |
|
|
|
| 41292945 |
A/G |
|
|
g.819360A>G |
|
IVS5+3683 |
|
|
|
| 41292947 |
A/T |
|
|
g.819366A>T |
|
IVS5+3689 |
|
|
|
| 41292949 |
A/G |
c.136A>G |
p.Asn441Ser |
g.819407A>G |
Exon 6 |
1322 |
|
|
|
| 6843900 |
G/T |
c.1340T>G |
p.Ile447Arg |
g.819425T>G |
Exon 6 |
1340 |
|
|
|
| 41292951 |
A/G |
c.1362A>G |
p.Val454Val |
g.819447A>G |
Exon 6 |
1362 |
|
|
|
| 6812191 |
C/G |
c.1372C>G |
p.His458Asp |
g.819457C>G |
Exon 6 |
1372 |
|
|
|
| 72552703 |
C/G |
c.1401G>C |
p.Val467Val |
g.819486G>C |
Exon 6 |
1401 |
|
|
|
| 72552704 |
C/T |
c.1405T>C |
p.Cys469Arg |
g.819490T>C |
Exon 6 |
1405 |
|
|
|
| 72552705 |
C/G |
c.1406G>C |
p.Cys469Ser |
g.819491G>C |
Exon 6 |
1406 |
|
|
|
| 4558432 |
G/T |
c.1532T>G |
p.Phe511Cys |
g.819617T>G |
Exon 6 |
1532 |
|
|
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| 45586838 |
A/T |
|
|
g.819705A>T |
|
IVS6+30 |
|
|
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| 7437560 |
C/G |
|
|
g.819942C>G |
|
IVS6+267 |
|
|
|
| 34313836 |
-/G |
|
|
|
|
NO |
|
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| 34549399 |
-/A |
|
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|
|
NO |
|
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| 57595832 |
-/T |
|
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|
|
NO |
|
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| 7144092 |
-/A |
|
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|
|
NO |
|
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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_077444.3 |
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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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| 5Coding positions are
relative to the first coding nucleotide of the exon. |
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