Known Diseases associated with this Protein: |  GLUCOCORTICOID DEFICIENCY 2
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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 | rs79126334 | Polymorphism | p.CYS78TRP | N/A | | dbSNP | rs114530014 | Polymorphism | p.THR130ILE | N/A | | OMIM | 609196.0006 | Disease | p.MET1ILE | GLUCOCORTICOID DEFICIENCY 2 |
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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116242634
MRAP_HUMAN RecName: Full=Melanocortin-2 receptor accessory protein; AltName: Full=B27; AltName: Full=Fat cell-specific low molecular weight protein; AltName: Full=Fat tissue-specific low MW protein
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