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Results for the Protein: Q96RN1
74761075

S26A8_HUMAN RecName: Full=Testis anion transporter 1; AltName: Full=Anion exchange transporter; AltName: Full=Solute carrier family 26 member 8

Known Diseases associated with this Protein:
  SPERMATOGENIC FAILURE 3
  SPERMATOGENIC FAILURE 3 (SPGF3)
6
5
3
5
3
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Default View:

SUL1 - COG0659
Sulfate_transp - pfam00916
STAS_SulP_like_sulfa - cd07042


Swiss-Prot Protein: Q96RN1
Identical to: NP_443193, NP_001180405
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
STAS_SulP_like_sulfacd070421.9e-29544787
Sulfate_transppfam009161.1e-50212489

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_070060Diseasep.ARG954CYSSpermatogenic failure 3 (SPGF3)
Swiss-ProtVAR_070058Diseasep.ARG87GLNSpermatogenic failure 3 (SPGF3)
Swiss-ProtVAR_070059Diseasep.GLU812LYSSpermatogenic failure 3 (SPGF3)
dbSNPrs17713154 Polymorphismp.ILE148VALN/A
dbSNPrs2295852 Polymorphismp.ILE639VALN/A
dbSNPrs17707331 Polymorphismp.SER230ASNN/A
dbSNPrs75822578 Polymorphismp.VAL578ALAN/A
dbSNPrs743923 Polymorphismp.VAL73METN/A
OMIM608480.0003 Diseasep.ARG954CYSSPERMATOGENIC FAILURE 3
OMIM608480.0001 Diseasep.ARG87GLNSPERMATOGENIC FAILURE 3
OMIM608480.0002 Diseasep.GLU812LYSSPERMATOGENIC FAILURE 3



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