Known Diseases associated with this Protein: |  CRANIOSYNOSTOSIS 3
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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 | rs12442879 | Polymorphism | p.GLY300SER | N/A | | OMIM | 600480.0007 | Disease | p.GLN638GLU | CRANIOSYNOSTOSIS 3 | | OMIM | 600480.0005 | Disease | p.GLU656TER | CRANIOSYNOSTOSIS 3 | | OMIM | 600480.0003 | Disease | p.SER241TER | CRANIOSYNOSTOSIS 3 | | OMIM | 600480.0001 | Disease | p.SER281TER | CRANIOSYNOSTOSIS 3 |
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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46370082
transcription factor 12 isoform a [Homo sapiens]
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