Transcript #00021695 (NM_000367.2, TPMT gene)

Transcript name thiopurine S-methyltransferase
Gene name TPMT (thiopurine S-methyltransferase)
Chromosome 6
Transcript - NCBI ID NM_000367.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000358.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

394 entries on 4 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

RNA change     

Protein     
-?/. _1 c.-235_-149= TPMT*V6 r.(=) p.(=)
?/. _1 c.-235_-149= TPMT*V6 r.(=) p.(=)
?/. _1 c.? TPMT*V3 r.(=) p.(=)
+?/. _1 c.? TPMT*V9 r.(=) p.(=)
-?/. _1 c.[-235_-218[5];-181_-149del] TPMT*V7 r.(=) p.(=)
+?/. _1 c.[-235_-218[5];-181_-149del] TPMT*V7 r.(=) p.(=)
-?/. _1 c.[-235_-218[6];-181_-149del] TPMT*V8 r.(=) p.(=)
+?/. _1 c.[-235_-218[6];-181_-149del] TPMT*V8 r.(=) p.(=)
-?/. _1 c.-182_-149del TPMT*V4 r.(=) p.(=)
-?/. _1 c.-182_-149del TPMT*V4 r.(=) p.(=)
?/. _1 c.-178C>T TPMT*1A r.(=) p.(=)
-?/. _1 c.-178C>T TPMT*1A r.(=) p.(=)
?/. _1 c.-178C>T TPMT*1A r.(=) p.(=)
-?/. _1 c.-165_-149del TPMT*V5 r.(=) p.(=)
-?/. _1 c.-165_-149del TPMT*V5 r.(=) p.(=)
-/. _1 c.-165_-149del - r.(?) p.(=)
-?/. 1i c.-44-124G>A - r.(=) p.(=)
?/. 1 c.-30T>A - r.(?) p.(=)
+/. 2 c.1A>G TPMT*14 r.(?) p.0?
+/. 2 c.1A>G TPMT*14 r.(?) p.0?
+/. 2 c.1A>G TPMT*14 r.(?) p.0?
?/. 1 c.2T>C TPMT*29 r.(?) p.0?
+/. 2 c.2T>C TPMT*29 r.2u>c p.0?
-?/. 2 c.30T>A - r.(?) p.(=)
+/. 2 c.83A>T TPMT*13 r.(?) p.(Glu28Val)
+?/. 2 c.83A>T TPMT*13 r.(?) p.Glu28Val
+/. 2 c.83A>T TPMT*13 r.(?) p.(Glu28Val)
+/. - c.95dup TPMT*42 r.(?) p.(Trp33Valfs*26)
?/. 2 c.106G>A TPMT*30 r.(?) p.(Gly36Ser)
+/. 2 c.106G>A TPMT*30 r.(?) p.Gly36Ser
?/. 2 c.106G>A TPMT*30 r.(?) p.(Gly36Ser)
+/. 2 c.124C>G TPMT*17 r.(?) p.(Gln42Glu)
+/. 2 c.124C>G TPMT*17 r.(?) p.Gln42Glu
+/. 2 c.124C>G TPMT*17 r.(?) p.(Gln42Glu)
?/. 2i c.140+114T>A TPMT*3E r.(?) p.(=)
+/. 2i c.140+114T>A TPMT*3E r.(=) p.(=)
?/. 2i c.141-101A>T - r.(=) p.(=)
-?/. 2i c.141-101A>T - r.(=) p.(=)
-?/. 2i c.141-101A>T TPMT*3E r.(=) p.(=)
+/. 3 c.146T>C TPMT*5 r.(?) p.(Leu49Ser)
+/. 3 c.146T>C TPMT*5 r.(?) p.Leu49Ser
+/. 3 c.146T>C TPMT*5 r.(?) p.Leu49Ser
+/. 3 c.146T>C TPMT*5 r.(?) p.(Leu49Ser)
?/. 3 c.200T>C TPMT*35 r.(?) p.(Phe67Ser)
+?/. 3 c.200T>C TPMT*35 r.(?) p.(Phe67Ser)
+/. 3 c.205C>G TPMT*21 r.(?) p.(Leu69Val)
+/. 3 c.205C>G TPMT*21 r.(?) p.(Leu69Val)
+/. 3 c.205C>G TPMT*21 r.(?) p.Leu69Val
+/. 3 c.205C>G TPMT*21 r.(?) p.Leu69Val
+/. 3 c.205C>G TPMT*21 r.(?) p.(Leu69Val)
+?/. 3 c.205C>G TPMT*21 r.(?) p.(Leu69Val)
+/. 3 c.211G>A TPMT*18 r.(?) p.(Gly71Arg)
+/. 3 c.211G>A TPMT*18 r.(?) p.Gly71Arg
+/. 3 c.211G>A TPMT*18 r.(?) p.(Gly71Arg)
+/. 3 c.211G>A TPMT*18 r.(?) p.(Gly71Arg)
+/. - c.218C>T TPMT*39 r.(?) p.(Ala73Val)
-?/. 3 c.219G>A - r.(?) p.(=)
+?/. 3i c.233+35C>T - r.(=) p.(=)
-/. 3i c.233+35C>T - r.(?) p.(=)
-/. 3i c.233+35C>T - r.(?) p.(=)
?/. 3i c.233+35C>T - r.(?) p.(=)
-/. 3i c.233+35C>T - r.(?) p.(=)
?/. 3i c.233+96G>T - r.(?) p.(=)
+/. - c.234G>T TPMT*43 r.(?) p.(Trp78Cys)
+/. 4 c.238G>C TPMT*2 r.(?) p.Ala80Pro
+/. 4 c.238G>C TPMT*2 r.(?) p.(Ala80Pro)
+/. 4 c.238G>C TPMT*2 r.(?) p.(Ala80Pro)
+/. 4 c.238G>C TPMT*2 r.238g>c p.Ala80Pro
+/. 4 c.238G>C TPMT*2 r.238g>c p.Ala80Pro
+/. 4 c.238G>C TPMT*2 r.238g>c p.Ala80Pro
+/. 4 c.238G>C TPMT*2 r.(?) p.(Ala80Pro)
+/. 4 c.238G>C TPMT*2 r.(?) p.(Ala80Pro)
+/. 4 c.238G>C TPMT*2 r.(?) p.(Ala80Pro)
+/. 4 c.238G>C TPMT*2 r.(?) p.(Ala80Pro)
+/. 4 c.238G>C TPMT*2 r.(?) p.(Ala80Pro)
+/. 4 c.238G>C TPMT*2 r.(?) p.(Ala80Pro)
+/. 4 c.238G>C TPMT*2 r.238g>c p.Ala80Pro
+/. 4 c.238G>C TPMT*2 r.238g>c p.Ala80Pro
+/. 4 c.238G>C TPMT*2 r.238g>c p.Ala80Pro
+/. 4 c.238G>C TPMT*2 r.238g>c p.Ala80Pro
+/. 4 c.238G>C TPMT*2 r.238g>c p.Ala80Pro
?/. - c.238G>C - r.(?) p.(Ala80Pro)
+/. 4 c.238G>C TPMT*1/*2 r.(238g>c) p.(Ala80Pro)
+/+ 4 c.238G>C TPMT*2 r.(?) p.(Ala80Pro)
+/. 4 c.238G>C TPMT*2 r.238g>c p.Ala80Pro
+/. 4 c.238G>C TPMT*2 r.238g>c p.Ala80Pro
+?/. 4 c.244C>T TPMT*34 r.(?) p.(Arg82Trp)
+/. 4 c.244C>T TPMT*34 r.(?) p.(Arg82Trp)
+/. - c.262G>A TPMT*43 r.(?) p.(Gly88Ser)
+/. 4 c.291del - r.(?) p.(Glu98AsnfsTer51)
+/. 4 c.292G>T TPMT*3D r.(?) p.(Glu98*)
-?/. 4 c.292G>T TPMT*3D r.(?) p.(Glu98*)
+/. 4 c.319T>G TPMT*27 r.(?) p.(Tyr107Asp)
+/. 4 c.319T>G TPMT*27 r.(?) p.(Tyr107Asp)
-?/. 4 c.339C>T - r.(?) p.(=)
-?/. 4 c.339C>T - r.(?) p.(=)
+?/. 4 c.340G>A TPMT*32 r.(?) p.(Glu114Lys)
+/. 4 c.340G>A TPMT*32 r.(?) p.(Glu114Lys)
+/. 4 c.349G>C TPMT*28 r.(?) p.(Gly117Arg)
+/. 4 c.349G>C TPMT*28 r.(?) p.(Gly117Arg)
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