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Results for the Protein: Q8NFS9
298351849

GNT2C_HUMAN RecName: Full=N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase, isoform C; Short=N-acetylglucosaminyltransferase; AltName: Full=I-branching enzyme; AltName: Full=IGNT

Known Diseases associated with this Protein:
  CATARACT 13 WITH ADULT I PHENOTYPE
2
2
2
2
0
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Swiss-Prot Protein: Q8NFS9
Identical to: NP_663630
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NO_DOMAIN_FOUND00

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs539351 Polymorphismp.ASP272GLUN/A
dbSNPrs594495 Polymorphismp.HIS236ARGN/A
OMIM600429.0002 Diseasep.ARG383HISCATARACT 13 WITH ADULT i PHENOTYPE
OMIM600429.0001 Diseasep.GLY348GLUCATARACT 13 WITH ADULT i PHENOTYPE



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