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Results for the Protein: Q96NL8
74732592

CH037_HUMAN RecName: Full=Protein C8orf37

Known Diseases associated with this Protein:
  CONE-ROD DYSTROPHY 16
  CONE-ROD DYSTROPHY 16 (CORD16)
  RETINITIS PIGMENTOSA 64
  RETINITIS PIGMENTOSA 64 (RP64)
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Swiss-Prot Protein: Q96NL8
Identical to: NP_808880
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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_067305Diseasep.ARG177TRPCone-rod dystrophy 16 (CORD16)
Swiss-ProtVAR_067306Diseasep.GLN182ARGRetinitis pigmentosa 64 (RP64)
dbSNPrs36096184 Polymorphismp.PRO19ALAN/A
OMIM614477.0003 Diseasep.ARG177TRPCONE-ROD DYSTROPHY 16
OMIM614477.0004 Diseasep.GLN182ARGRETINITIS PIGMENTOSA 64
OMIM614477.0001 Diseasep.LEU166TERRETINITIS PIGMENTOSA 64



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