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Results for the Protein: NP_057264
61635915

membrane-associated transporter protein isoform a [Homo sapiens]

Known Diseases associated with this Protein:
  OCULOCUTANEOUS ALBINISM, TYPE IV
  SKIN/HAIR/E
  SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR
  SKIN/HAIR/EYE PIGMENTATION 5, DARK/FAIR SKIN, INCLUDED;;
5
2
5
2
0
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MFS - cd06174


RefSeq Protein: NP_057264
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
MFScd061740.0004935526

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs26722 Polymorphismp.GLU272LYSN/A
dbSNPrs16891982 Polymorphismp.LEU374PHEN/A
OMIM606202.0005 Diseasep.ALA486VALOCULOCUTANEOUS ALBINISM, TYPE IV
OMIM606202.0006 Diseasep.ASP157ASNOCULOCUTANEOUS ALBINISM, TYPE IV
OMIM606202.0007 Diseasep.GLU272LYSSKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR||SKIN/HAIR/EYE PIGMENTATION 5, DARK/FAIR SKIN, INCLUDED;;||SKIN/HAIR/E
OMIM606202.0002 Diseasep.LEU361PROOCULOCUTANEOUS ALBINISM, TYPE IV
OMIM606202.0008 Diseasep.PHE374LEUSKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR||SKIN/HAIR/EYE PIGMENTATION 5, DARK/FAIR SKIN, INCLUDED;;||SKIN/HAIR/E



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