Transcript #00000063

Transcript name transcript variant 3
Gene name EXT2 (exostosin glycosyltransferase 2)
Chromosome 11
Transcript - NCBI ID NM_001178083.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001171554.1
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.-31+372G>A r.(=) p.(=)
./. - c.-31+373C>G r.(=) p.(=)
./. - c.-31+484del r.(=) p.(=)
./. - c.-31+484del r.(=) p.(=)
./. - c.-31+514_-31+559del r.(=) p.(=)
./. - c.-13T>C r.(=) p.(=)
./. - c.11C>T r.(?) p.(Ser4Leu)
./. - c.11C>T r.(?) p.(Ser4Leu)
./. - c.151G>C r.(?) p.(Glu51Gln)
./. - c.151G>C r.(?) p.(Glu51Gln)
./. - c.260T>G r.(?) p.(Met87Arg)
./. - c.260T>G r.(?) p.(Met87Arg)
./. - c.260T>G r.(?) p.(Met87Arg)
./. - c.284G>A r.(?) p.(Arg95His)
./. - c.284G>A r.(?) p.(Arg95His)
./. - c.326A>G r.(?) p.(Tyr109Cys)
./. - c.343G>A r.(?) p.(Val115Met)
./. - c.357C>T r.(=) p.(=)
./. - c.374C>G r.(?) p.(Thr125Ser)
./. - c.473A>G r.(?) p.(Asp158Gly)
./. - c.476T>G r.(?) p.(Val159Gly)
./. - c.476T>G r.(?) p.(Val159Gly)
./. - c.519G>C r.(=) p.(=)
./. - c.519G>C r.(=) p.(=)
./. - c.519G>C r.(=) p.(=)
./. - c.519G>C r.(=) p.(=)
./. - c.519G>C r.(=) p.(=)
./. - c.519G>C r.(=) p.(=)
./. - c.519G>C r.(=) p.(=)
./. - c.519G>C r.(=) p.(=)
./. - c.519G>C r.(=) p.(=)
./. - c.519G>C r.(=) p.(=)
./. - c.519G>C r.(=) p.(=)
./. - c.519G>C r.(=) p.(=)
./. - c.520A>C r.(?) p.(Met174Leu)
./. - c.520A>C r.(?) p.(Met174Leu)
./. - c.520A>C r.(?) p.(Met174Leu)
./. - c.537-22T>G r.(=) p.(=)
./. - c.710C>T r.(?) p.(Ser237Leu)
./. - c.710C>T r.(?) p.(Ser237Leu)
./. - c.719T>C r.(?) p.(Val240Ala)
./. - c.744-45C>T r.(=) p.(=)
./. - c.744-45C>T r.(=) p.(=)
./. - c.744-24A>G r.(=) p.(=)
./. - c.744-24A>G r.(=) p.(=)
./. - c.744-24A>G r.(=) p.(=)
./. - c.744-24A>G r.(=) p.(=)
./. - c.744-24A>G r.(=) p.(=)
./. - c.744-24A>G r.(=) p.(=)
./. - c.804C>T r.(=) p.(=)
./. - c.889C>T r.(?) p.(Arg297Cys)
./. - c.889C>T r.(?) p.(Arg297Cys)
./. - c.889C>T r.(?) p.(Arg297Cys)
./. - c.889C>T r.(?) p.(Arg297Cys)
./. - c.896G>A r.(?) p.(Arg299His)
./. - c.918C>T r.(=) p.(=)
./. - c.918C>T r.(=) p.(=)
./. - c.918C>T r.(=) p.(=)
./. - c.940-27A>G r.(=) p.(=)
./. - c.940-18C>G r.(=) p.(=)
./. - c.965G>A r.(?) p.(Arg322His)
./. - c.965G>A r.(?) p.(Arg322His)
./. - c.1003T>C r.(=) p.(=)
./. - c.1079+17A>G r.(=) p.(=)
./. - c.1079+23C>T r.(=) p.(=)
./. - c.1079+23C>T r.(=) p.(=)
./. - c.1080-16T>G r.(=) p.(=)
./. - c.1267-86A>G r.(=) p.(=)
./. - c.1267-86A>G r.(=) p.(=)
./. - c.1267-59G>A r.(=) p.(=)
./. - c.1335+12C>G r.(=) p.(=)
./. - c.1336-23C>T r.(=) p.(=)
./. - c.1370C>T r.(?) p.(Pro457Leu)
./. - c.1400C>A r.(?) p.(Thr467Asn)
./. - c.1525+31A>G r.(=) p.(=)
./. - c.1526-1G>C r.spl? p.?
./. - c.1526-1G>C r.spl? p.?
./. - c.1594C>T r.(?) p.(Arg532Cys)
./. - c.1617C>T r.(=) p.(=)
./. - c.1671C>T r.(=) p.(=)
./. - c.1671C>T r.(=) p.(=)
./. - c.1671C>T r.(=) p.(=)
./. - c.1671C>T r.(=) p.(=)
./. - c.1671C>T r.(=) p.(=)
./. - c.1671C>T r.(=) p.(=)
./. - c.1671C>T r.(=) p.(=)
./. - c.1671C>T r.(=) p.(=)
./. - c.1671C>T r.(=) p.(=)
./. - c.1671C>T r.(=) p.(=)
./. - c.1671C>T r.(=) p.(=)
./. - c.1675C>T r.(=) p.(=)
./. - c.1675C>T r.(=) p.(=)
./. - c.1675C>T r.(=) p.(=)
./. - c.1692+20T>C r.(=) p.(=)
./. - c.1693-32G>A r.(=) p.(=)
./. - c.1693-32G>A r.(=) p.(=)
./. - c.1693-32G>A r.(=) p.(=)
./. - c.1790C>T r.(?) p.(Thr597Met)
./. - c.1790C>T r.(?) p.(Thr597Met)
./. - c.1790C>T r.(?) p.(Thr597Met)
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