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Results for the Protein: NP_112246
195972900

thromboxane-A synthase isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
  GHOSAL HEMATODIAPHYSEAL SYNDROME
4
11
4
11
0
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Default View:

CypX - COG2124
p450 - pfam00067


RefSeq Protein: NP_112246
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
p450pfam000675.6e-2445460

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs4526 Polymorphismp.ALA430THRN/A
dbSNPrs5762 Polymorphismp.ARG425CYSN/A
dbSNPrs13306050 Polymorphismp.ARG458CYSN/A
dbSNPrs4528 Polymorphismp.GLN417GLUN/A
dbSNPrs5771 Polymorphismp.GLN317LYSN/A
dbSNPrs5768 Polymorphismp.GLU161ASPN/A
dbSNPrs5760 Polymorphismp.GLY390VALN/A
dbSNPrs4529 Polymorphismp.LEU357VALN/A
dbSNPrs5769 Polymorphismp.LYS258GLUN/A
dbSNPrs5763 Polymorphismp.THR451ASNN/A
dbSNPrs13306052 Polymorphismp.VAL295METN/A
OMIM274180.0004 Diseasep.ARG367GLUGHOSAL HEMATODIAPHYSEAL SYNDROME
OMIM274180.0003 Diseasep.GLY436TRPGHOSAL HEMATODIAPHYSEAL SYNDROME
OMIM274180.0001 Diseasep.LEU442PROGHOSAL HEMATODIAPHYSEAL SYNDROME
OMIM274180.0002 Diseasep.LEU83PROGHOSAL HEMATODIAPHYSEAL SYNDROME



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