Known Diseases associated with this Protein: |  ALBINISM, OCULOCUTANEOUS, TYPE VI
| SKIN/HAIR/EYE PIGMENTATION 4, FAIR/DARK SKIN
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Domains found on the Protein Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| dbSNP | rs1426654 | Polymorphism | p.THR111ALA | N/A | | OMIM | 609802.0001 | Disease | p.ALA111THR | SKIN/HAIR/EYE PIGMENTATION 4, FAIR/DARK SKIN | | OMIM | 609802.0003 | Disease | p.TRP197TER | ALBINISM, OCULOCUTANEOUS, TYPE VI |
Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.
| DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD
21250 | Department of Biological Sciences | Phone: 410-455-2258 |
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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
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