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Results for the Protein: Q71RS6
74749781

NCKX5_HUMAN RecName: Full=Sodium/potassium/calcium exchanger 5; AltName: Full=Na(+)/K(+)/Ca(2+)-exchange protein 5; AltName: Full=Solute carrier family 24 member 5; Flags: Precursor

Known Diseases associated with this Protein:
  ALBINISM, OCULOCUTANEOUS, TYPE VI
  SKIN/HAIR/EYE PIGMENTATION 4, FAIR/DARK SKIN
2
1
2
1
0
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Default View:

ECM27 - COG0530
Na_Ca_ex - pfam01699


Swiss-Prot Protein: Q71RS6
Identical to: NP_995322
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ECM27COG05305.1e-3363485
Na_Ca_expfam016991.5e-2682214
Na_Ca_expfam016992.3e-28343482

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs1426654 Polymorphismp.THR111ALAN/A
OMIM609802.0001 Diseasep.ALA111THRSKIN/HAIR/EYE PIGMENTATION 4, FAIR/DARK SKIN
OMIM609802.0003 Diseasep.TRP197TERALBINISM, OCULOCUTANEOUS, TYPE VI



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