Known Diseases associated with this Protein: |  SCHNECKENBECKEN DYSPLASIA
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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 | rs10157422 | Polymorphism | p.ALA82THR | N/A | | OMIM | 610804.0004 | Disease | p.ARG107TER | SCHNECKENBECKEN DYSPLASIA | | OMIM | 610804.0007 | Disease | p.THR65PRO | SCHNECKENBECKEN DYSPLASIA | | OMIM | 610804.0002 | Disease | p.TRP311TER | SCHNECKENBECKEN DYSPLASIA |
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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20140875
S35D1_HUMAN RecName: Full=UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter; Short=UDP-GlcA/UDP-GalNAc transporter; AltName: Full=Solute carrier family 35 member D1; AltName: Full=UDP-galactose transporter-related protein 7; Short=UGTrel7
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