Mutations on the Protein: NP_005594 From Positions: 563 To 626
dbSNP Polymorphism: rs3745078 
dbSNP Polymorphism: rs33963153 
OMIM Disease: 602397.0013 
p.ARG602TER
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CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1
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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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3
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1
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