Mutations on the Protein: Q01726 From Positions: 79 To 95
Swiss-Prot Polymorphism: VAR_003507 
Swiss-Prot Polymorphism: VAR_042654 
Swiss-Prot Polymorphism: VAR_059021 
Swiss-Prot Polymorphism: VAR_042655 
dbSNP Polymorphism: rs2228479 
OMIM Disease: 155555.0003 

p.ASP84GLU

N/A
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N/A
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MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5
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OMIM Disease: 155555.0002 

p.VAL92MET

N/A
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N/A
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SKIN/HAIR/EYE PIGMENTATION 2, RED HAIR/FAIR SKIN||SKIN/HAIR/EYE PIGMENTATION 2, BLOND HAIR/FAIR SKIN, INCLUDED
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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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