Transcript #00000060

Transcript name exostosin glycosyltransferase 1
Gene name EXT1 (exostosin glycosyltransferase 1)
Chromosome 8
Transcript - NCBI ID NM_000127.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000118.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

56 entries on 1 page. Showing entries 1 - 56.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-40C>G r.(=) p.(=)
./. - c.-40C>G r.(=) p.(=)
./. - c.55C>T r.(?) p.(Leu19Phe)
./. - c.122G>C r.(?) p.(Ser41Thr)
./. - c.210A>G r.(=) p.(=)
./. - c.214G>A r.(?) p.(Glu72Lys)
./. - c.214G>A r.(?) p.(Glu72Lys)
./. - c.315T>C r.(=) p.(=)
./. - c.517A>G r.(?) p.(Asn173Asp)
./. - c.528C>G r.(=) p.(=)
./. - c.844G>A r.(?) p.(Ala282Thr)
./. - c.962+22T>C r.(=) p.(=)
./. - c.962+22T>C r.(=) p.(=)
./. - c.962+22T>C r.(=) p.(=)
./. - c.962+37del r.(=) p.(=)
./. - c.1164+51C>T r.(=) p.(=)
./. - c.1164+51C>T r.(=) p.(=)
./. - c.1165-49T>C r.(=) p.(=)
./. - c.1165-35del r.(=) p.(=)
./. - c.1284+25G>A r.(=) p.(=)
./. - c.1284+25G>A r.(=) p.(=)
./. - c.1284+25G>A r.(=) p.(=)
./. - c.1284+25G>A r.(=) p.(=)
./. - c.1360G>A r.(?) p.(Val454Ile)
./. - c.1417+16C>T r.(=) p.(=)
./. - c.1417+39del r.(=) p.(=)
./. - c.1418-45T>C r.(=) p.(=)
./. - c.1418-34G>A r.(=) p.(=)
./. - c.1418-34G>A r.(=) p.(=)
./. - c.1430C>G r.(?) p.(Pro477Arg)
./. - c.1430C>G r.(?) p.(Pro477Arg)
./. - c.1430C>G r.(?) p.(Pro477Arg)
./. - c.1430C>G r.(?) p.(Pro477Arg)
./. - c.1430C>G r.(?) p.(Pro477Arg)
./. - c.1486C>T r.(?) p.(Pro496Ser)
./. - c.1536+7G>A r.(=) p.(=)
./. - c.1659C>T r.(=) p.(=)
./. - c.1659C>T r.(=) p.(=)
./. - c.1677C>T r.(=) p.(=)
./. - c.1722+9C>T r.(=) p.(=)
./. - c.1722+9C>T r.(=) p.(=)
./. - c.1722+9C>T r.(=) p.(=)
./. - c.1722+9C>T r.(=) p.(=)
./. - c.1779C>T r.(=) p.(=)
./. - c.1779C>T r.(=) p.(=)
./. - c.1779C>T r.(=) p.(=)
./. - c.1779C>T r.(=) p.(=)
./. - c.1779C>T r.(=) p.(=)
./. - c.1779C>T r.(=) p.(=)
./. - c.1779C>T r.(=) p.(=)
./. - c.1779C>T r.(=) p.(=)
./. - c.1782G>A r.(=) p.(=)
./. - c.2178C>T r.(=) p.(=)
./. - c.*48A>T r.(=) p.(=)
./. - c.*48A>T r.(=) p.(=)
./. - c.*48A>T r.(=) p.(=)
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