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Known Diseases associated with this Protein: | 46,XY SEX REVERSAL 6
| 46,XY SEX REVERSAL 6 (SRXY6)
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Default View:
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Domains found on the Protein Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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dbSNP | rs702689 | Polymorphism | p.ASP806ASN | N/A | Swiss-Prot | VAR_040681 | Polymorphism | p.CYS443SER | N/A | Swiss-Prot | VAR_065507 | Disease | p.GLY616ARG | 46,XY sex reversal 6 (SRXY6) | Swiss-Prot | VAR_065505 | Disease | p.LEU189ARG | 46,XY sex reversal 6 (SRXY6) | Swiss-Prot | VAR_065504 | Disease | p.LEU189PRO | 46,XY sex reversal 6 (SRXY6) | Swiss-Prot | VAR_040680 | Polymorphism | p.SER92ASN | N/A | dbSNP | rs832582 | Polymorphism | p.VAL906ILE | N/A | OMIM | 600982.0002 | Disease | p.GLY616ARG | 46,XY SEX REVERSAL 6 | OMIM | 600982.0004 | Disease | p.LEU189ARG | 46,XY SEX REVERSAL 6 | OMIM | 600982.0003 | Disease | p.LEU189PRO | 46,XY SEX REVERSAL 6 |
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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