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Results for the Protein: NP_001161857
270309167

UDP-N-acetylglucosamine transferase subunit ALG13 homolog isoform 4 [Homo sapiens]

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

Glyco_tran_28_C - pfam04101
COG5017 - COG5017




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Glyco_tran_28_Cpfam041017.1e-173133

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM300776.0002 Diseasep.ASN107SERCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Is
OMIM300776.0001 Diseasep.LYS94GLUCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Is



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