Known Diseases associated with this Protein: |  PONTOCEREBELLAR HYPOPLASIA, TYPE 2B
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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 | rs33955793 | Polymorphism | p.ARG126HIS | N/A | | dbSNP | rs12495784 | Polymorphism | p.ARG41HIS | N/A | | OMIM | 608753.0001 | Disease | p.TYR250CYS | PONTOCEREBELLAR HYPOPLASIA, TYPE 2B |
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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223972636
tRNA-splicing endonuclease subunit Sen2 isoform 3 [Homo sapiens]
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