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Results for the Protein: Q96MW5
215273958

COG8_HUMAN RecName: Full=Conserved oligomeric Golgi complex subunit 8; Short=COG complex subunit 8; AltName: Full=Component of oligomeric Golgi complex 8

Known Diseases associated with this Protein:
  CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIH
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Default View:

Dor1 - pfam04124


Swiss-Prot Protein: Q96MW5
Identical to: NP_115758
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_047655Polymorphismp.LEU517ARGN/A
dbSNPrs76253513 Polymorphismp.PRO531SERN/A
OMIM606979.0001 Diseasep.TYR537TERCONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh



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