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Results for the Protein: O75326
14548264

SEM7A_HUMAN RecName: Full=Semaphorin-7A; AltName: Full=CDw108; AltName: Full=JMH blood group antigen; AltName: Full=John-Milton-Hargen human blood group Ag; AltName: Full=Semaphorin-K1; Short=Sema K1; AltName: Full=Semaphorin-L; Short=Sema L; AltName: CD_antigen=CD108; Flags: Precursor

Known Diseases associated with this Protein:
  JOHN MILTON HAGEN BLOOD GROUP SYSTEM, JMH-VARIANT PHENOTYPE
5
6
5
1
5
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Default View:

Sema - smart00630
PSI - smart00423


Swiss-Prot Protein: O75326
Identical to: NP_003603
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Semasmart006305.3e-12175466
PSIsmart004232.9e-10493542

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_038839Polymorphismp.ARG461CYSN/A
Swiss-ProtVAR_038836Polymorphismp.ARG207GLNN/A
Swiss-ProtVAR_038838Polymorphismp.ARG460HISN/A
Swiss-ProtVAR_068679Polymorphismp.ARG347LEUN/A
Swiss-ProtVAR_038837Polymorphismp.ARG207TRPN/A
dbSNPrs16968733 Polymorphismp.SER115THRN/A
OMIM607961.0004 Diseasep.ARG461CYSJOHN MILTON HAGEN BLOOD GROUP SYSTEM, JMH-VARIANT PHENOTYPE
OMIM607961.0001 Diseasep.ARG207GLNJOHN MILTON HAGEN BLOOD GROUP SYSTEM, JMH-VARIANT PHENOTYPE
OMIM607961.0003 Diseasep.ARG460HISJOHN MILTON HAGEN BLOOD GROUP SYSTEM, JMH-VARIANT PHENOTYPE
OMIM607961.0005 Diseasep.ARG347LEUJOHN MILTON HAGEN BLOOD GROUP SYSTEM, JMH-VARIANT PHENOTYPE
OMIM607961.0002 Diseasep.ARG207TRPJOHN MILTON HAGEN BLOOD GROUP SYSTEM, JMH-VARIANT PHENOTYPE



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