Transcript #00000061

Transcript name transcript variant 1
Gene name EXT2 (exostosin glycosyltransferase 2)
Chromosome 11
Transcript - NCBI ID NM_000401.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000392.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

111 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-29G>A r.(=) p.(=)
./. - c.-28C>G r.(=) p.(=)
./. - c.69+15del r.(=) p.(=)
./. - c.69+15del r.(=) p.(=)
./. - c.69+45_69+90del r.(=) p.(=)
./. - c.87T>C r.(=) p.(=)
./. - c.110C>T r.(?) p.(Ser37Leu)
./. - c.110C>T r.(?) p.(Ser37Leu)
./. - c.250G>C r.(?) p.(Glu84Gln)
./. - c.250G>C r.(?) p.(Glu84Gln)
./. - c.359T>G r.(?) p.(Met120Arg)
./. - c.359T>G r.(?) p.(Met120Arg)
./. - c.359T>G r.(?) p.(Met120Arg)
./. - c.383G>A r.(?) p.(Arg128His)
./. - c.383G>A r.(?) p.(Arg128His)
./. - c.425A>G r.(?) p.(Tyr142Cys)
./. - c.442G>A r.(?) p.(Val148Met)
./. - c.456C>T r.(=) p.(=)
./. - c.473C>G r.(?) p.(Thr158Ser)
./. - c.572A>G r.(?) p.(Asp191Gly)
./. - c.575T>G r.(?) p.(Val192Gly)
./. - c.575T>G r.(?) p.(Val192Gly)
./. - c.618G>C r.(=) p.(=)
./. - c.618G>C r.(=) p.(=)
./. - c.618G>C r.(=) p.(=)
./. - c.618G>C r.(=) p.(=)
./. - c.618G>C r.(=) p.(=)
./. - c.618G>C r.(=) p.(=)
./. - c.618G>C r.(=) p.(=)
./. - c.618G>C r.(=) p.(=)
./. - c.618G>C r.(=) p.(=)
./. - c.618G>C r.(=) p.(=)
./. - c.618G>C r.(=) p.(=)
./. - c.618G>C r.(=) p.(=)
./. - c.619A>C r.(?) p.(Met207Leu)
./. - c.619A>C r.(?) p.(Met207Leu)
./. - c.619A>C r.(?) p.(Met207Leu)
./. - c.636-22T>G r.(=) p.(=)
./. - c.809C>T r.(?) p.(Ser270Leu)
./. - c.809C>T r.(?) p.(Ser270Leu)
./. - c.818T>C r.(?) p.(Val273Ala)
./. - c.843-45C>T r.(=) p.(=)
./. - c.843-45C>T r.(=) p.(=)
./. - c.843-24A>G r.(=) p.(=)
./. - c.843-24A>G r.(=) p.(=)
./. - c.843-24A>G r.(=) p.(=)
./. - c.843-24A>G r.(=) p.(=)
./. - c.843-24A>G r.(=) p.(=)
./. - c.843-24A>G r.(=) p.(=)
./. - c.903C>T r.(=) p.(=)
./. - c.988C>T r.(?) p.(Arg330Cys)
./. - c.988C>T r.(?) p.(Arg330Cys)
./. - c.988C>T r.(?) p.(Arg330Cys)
./. - c.988C>T r.(?) p.(Arg330Cys)
./. - c.995G>A r.(?) p.(Arg332His)
./. - c.1017C>T r.(=) p.(=)
./. - c.1017C>T r.(=) p.(=)
./. - c.1017C>T r.(=) p.(=)
./. - c.1039-27A>G r.(=) p.(=)
./. - c.1039-18C>G r.(=) p.(=)
./. - c.1064G>A r.(?) p.(Arg355His)
./. - c.1064G>A r.(?) p.(Arg355His)
./. - c.1102T>C r.(=) p.(=)
./. - c.1178+17A>G r.(=) p.(=)
./. - c.1178+23C>T r.(=) p.(=)
./. - c.1178+23C>T r.(=) p.(=)
./. - c.1179-16T>G r.(=) p.(=)
./. - c.1273-23A>G r.(=) p.(=)
./. - c.1273-23A>G r.(=) p.(=)
./. - c.1277G>A r.(?) p.(Arg426Gln)
./. - c.1404+12C>G r.(=) p.(=)
./. - c.1405-23C>T r.(=) p.(=)
./. - c.1439C>T r.(?) p.(Pro480Leu)
./. - c.1469C>A r.(?) p.(Thr490Asn)
./. - c.1594+31A>G r.(=) p.(=)
./. - c.1595-1G>C r.spl? p.?
./. - c.1595-1G>C r.spl? p.?
./. - c.1663C>T r.(?) p.(Arg555Cys)
./. - c.1686C>T r.(=) p.(=)
./. - c.1740C>T r.(=) p.(=)
./. - c.1740C>T r.(=) p.(=)
./. - c.1740C>T r.(=) p.(=)
./. - c.1740C>T r.(=) p.(=)
./. - c.1740C>T r.(=) p.(=)
./. - c.1740C>T r.(=) p.(=)
./. - c.1740C>T r.(=) p.(=)
./. - c.1740C>T r.(=) p.(=)
./. - c.1740C>T r.(=) p.(=)
./. - c.1740C>T r.(=) p.(=)
./. - c.1740C>T r.(=) p.(=)
./. - c.1744C>T r.(=) p.(=)
./. - c.1744C>T r.(=) p.(=)
./. - c.1744C>T r.(=) p.(=)
./. - c.1761+20T>C r.(=) p.(=)
./. - c.1762-32G>A r.(=) p.(=)
./. - c.1762-32G>A r.(=) p.(=)
./. - c.1762-32G>A r.(=) p.(=)
./. - c.1859C>T r.(?) p.(Thr620Met)
./. - c.1859C>T r.(?) p.(Thr620Met)
./. - c.1859C>T r.(?) p.(Thr620Met)
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