Known Diseases associated with this Protein: | ALBINISM, OCULOCUTANEOUS, TYPE VII
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Default View:
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Domains found on the Protein Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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dbSNP | rs75852090 | Polymorphism | p.GLY176GLU | N/A | dbSNP | rs35349706 | Polymorphism | p.SER153PHE | N/A | OMIM | 614537.0001 | Disease | p.ARG194TER | ALBINISM, OCULOCUTANEOUS, TYPE VII |
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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