Transcript #00004472

Transcript name ubiquitin-like modifier activating enzyme 6
Gene name UBA6 (ubiquitin like modifier activating enzyme 6)
Chromosome 4
Transcript - NCBI ID NM_018227.5
Transcript - Ensembl ID -
Protein - NCBI ID NP_060697.4
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

90 entries on 1 page. Showing entries 1 - 90.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-42_-41insC r.(=) p.(=)
./. - c.71+78C>T r.(=) p.(=)
./. - c.71+94G>T r.(=) p.(=)
./. - c.71+162C>T r.(=) p.(=)
./. - c.72-50A>G r.(=) p.(=)
./. - c.132T>C r.(=) p.(=)
./. - c.134+121G>A r.(=) p.(=)
./. - c.134+123_134+124del r.(=) p.(=)
./. - c.134+123_134+124dup r.(=) p.(=)
./. - c.134+123_134+126del r.(=) p.(=)
./. - c.134+123_134+126dup r.(=) p.(=)
./. - c.134+138T>C r.(=) p.(=)
./. - c.134+154_134+155insAT r.(=) p.(=)
./. - c.134+186_134+187insGTGT r.(=) p.(=)
./. - c.134+201A>G r.(=) p.(=)
./. - c.135-76A>C r.(=) p.(=)
./. - c.229+27_229+28insGTA r.(=) p.(=)
./. - c.229+63T>G r.(=) p.(=)
./. - c.230-111G>A r.(=) p.(=)
./. - c.230-103A>G r.(=) p.(=)
./. - c.230-39C>T r.(=) p.(=)
./. - c.258+48del r.(=) p.(=)
./. - c.258+115_258+116insT r.(=) p.(=)
./. - c.258+123_258+124insA r.(=) p.(=)
./. - c.259-95A>C r.(=) p.(=)
./. - c.259-67G>A r.(=) p.(=)
./. - c.465+64A>G r.(=) p.(=)
./. - c.465+89G>A r.(=) p.(=)
./. - c.465+108A>C r.(=) p.(=)
./. - c.466-102A>T r.(=) p.(=)
./. - c.466-45del r.(=) p.(=)
./. - c.466-7T>C r.(=) p.(=)
./. - c.546+12A>G r.(=) p.(=)
./. - c.670-50_670-48del r.(=) p.(=)
./. - c.670G>A r.(?) p.(Ala224Thr)
./. - c.794-131_794-129del r.(=) p.(=)
./. - c.794-19T>A r.(=) p.(=)
./. - c.897+28del r.(=) p.(=)
./. - c.898-77G>A r.(=) p.(=)
./. - c.960+28G>C r.(=) p.(=)
./. - c.960+200del r.(=) p.(=)
./. - c.961-23C>T r.(=) p.(=)
./. - c.1038-88A>G r.(=) p.(=)
./. - c.1038-51T>C r.(=) p.(=)
./. - c.1038-43A>C r.(=) p.(=)
./. - c.1104+130G>T r.(=) p.(=)
./. - c.1105-125T>C r.(=) p.(=)
./. - c.1105-92T>C r.(=) p.(=)
./. - c.1248+37G>A r.(=) p.(=)
./. - c.1248+47A>G r.(=) p.(=)
./. - c.1316+190A>G r.(=) p.(=)
./. - c.1395+45G>A r.(=) p.(=)
./. - c.1396-102del r.(=) p.(=)
./. - c.1470A>G r.(=) p.(=)
./. - c.1471_1472insAAAG r.(?) p.(Gly491Glufs*10)
./. - c.1554+52T>C r.(=) p.(=)
./. - c.1737-96del r.(=) p.(=)
./. - c.1737-43A>T r.(=) p.(=)
./. - c.1908T>C r.(=) p.(=)
./. - c.2014-109G>A r.(=) p.(=)
./. - c.2172G>T r.(=) p.(=)
./. - c.2180G>A r.(?) p.(Arg727Gln)
./. - c.2224C>G r.(?) p.(Pro742Ala)
./. - c.2258+37A>T r.(=) p.(=)
./. - c.2258+39A>G r.(=) p.(=)
./. - c.2258+93C>T r.(=) p.(=)
./. - c.2259-31del r.(=) p.(=)
./. - c.2274T>G r.(=) p.(=)
./. - c.2278A>C r.(?) p.(Asn760His)
./. - c.2328+104C>T r.(=) p.(=)
./. - c.2328+195G>A r.(=) p.(=)
./. - c.2400+207T>C r.(=) p.(=)
./. - c.2401-106T>A r.(=) p.(=)
./. - c.2401-50_2401-49insTT r.(=) p.(=)
./. - c.2518+18T>C r.(=) p.(=)
./. - c.2518+101_2518+103del r.(=) p.(=)
./. - c.2712+62C>T r.(=) p.(=)
./. - c.2712+103G>A r.(=) p.(=)
./. - c.2713-151C>T r.(=) p.(=)
./. - c.2713-126A>C r.(=) p.(=)
./. - c.2713-126A>G r.(=) p.(=)
./. - c.2713-73G>A r.(=) p.(=)
./. - c.2713-48G>A r.(=) p.(=)
./. - c.2841-68_2841-67insT r.(=) p.(=)
./. - c.2901C>A r.(=) p.(=)
./. - c.2929-95A>G r.(=) p.(=)
./. - c.3023+45G>A r.(=) p.(=)
./. - c.3024-56C>A r.(=) p.(=)
./. - c.3037G>T r.(?) p.(Val1013Leu)
./. - c.*78A>C r.(=) p.(=)
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