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Results for the Protein: Q9P0W8
37089915

SPAT7_HUMAN RecName: Full=Spermatogenesis-associated protein 7; AltName: Full=HSD-3.1; AltName: Full=Spermatogenesis-associated protein HSD3

Known Diseases associated with this Protein:
  LEBER CONGENITAL AMAUROSIS 3
  RETINITIS PIGMENTOSA, JUVENILE, SPATA7-RELATED
3
8
3
7
1
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Swiss-Prot Protein: Q9P0W8
Identical to: NP_060888
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs10139784 Polymorphismp.ARG534GLNN/A
dbSNPrs4904448 Polymorphismp.ASP2ASNN/A
dbSNPrs61747004 Polymorphismp.GLN95ARGN/A
dbSNPrs17124677 Polymorphismp.GLY324GLUN/A
Swiss-ProtVAR_067191Polymorphismp.ILE332THRN/A
dbSNPrs35137272 Polymorphismp.PHE119LEUN/A
dbSNPrs17124662 Polymorphismp.SER165ASNN/A
dbSNPrs3179969 Polymorphismp.VAL74METN/A
OMIM609868.0001 Diseasep.ARG108TERLEBER CONGENITAL AMAUROSIS 3
OMIM609868.0003 Diseasep.ARG395TERRETINITIS PIGMENTOSA, JUVENILE, SPATA7-RELATED
OMIM609868.0007 Diseasep.ARG85TERLEBER CONGENITAL AMAUROSIS 3



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