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Results for the Protein: NP_001007028
57165415

probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase isoform b [Homo sapiens]

Known Diseases associated with this Protein:
  CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IH
2
1
2
1
0
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Default View:

Alg6_Alg8 - pfam03155




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 ↕
dbSNPrs665278 Polymorphismp.ASN222SERN/A
OMIM608103.0006 Diseasep.GLY275ASPCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih
OMIM608103.0004 Diseasep.THR47PROCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih



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