Known Diseases associated with this Protein: |  CILIARY DYSKINESIA, PRIMARY, 12, WITHOUT SITUS INVERSUS
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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 Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| dbSNP | rs35110984 | Polymorphism | p.ALA88VAL | N/A | | dbSNP | rs16896629 | Polymorphism | p.VAL261ILE | N/A | | OMIM | 612648.0003 | Disease | p.GLN18TER | CILIARY DYSKINESIA, PRIMARY, 12, WITHOUT SITUS INVERSUS |
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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73917724
RSPH9_HUMAN RecName: Full=Radial spoke head protein 9 homolog
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