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Results for the Protein: Q9Y2D2
9087207

S35A3_HUMAN RecName: Full=UDP-N-acetylglucosamine transporter; AltName: Full=Golgi UDP-GlcNAc transporter; AltName: Full=Solute carrier family 35 member A3

Known Diseases associated with this Protein:
  ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES (1 FAMILY)
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Swiss-Prot Protein: Q9Y2D2
Identical to: NP_036375
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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 ↕
dbSNPrs74102304 Polymorphismp.VAL8ILEN/A
OMIM605632.0001 Diseasep.GLN130TERARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES (1 family)



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