Results for the protein: NP

Results for the Protein: NP_001124438

195972896

6916

TBXAS1

NCBI

thromboxane-A synthase isoform 1 [Homo sapiens]

Known Diseases associated with this Protein:
GHOSAL HEMATODIAPHYSEAL SYNDROME

4

12

4

12

0

Tips:

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Default View: CypX - COG2124 p450 - pfam00067	RefSeq Protein: NP_001124438 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
p450	pfam00067	8.9e-80	45	531

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs4526	Polymorphism	p.ALA430THR	N/A
dbSNP	rs5762	Polymorphism	p.ARG425CYS	N/A
dbSNP	rs8192864	Polymorphism	p.ARG502GLN	N/A
dbSNP	rs4528	Polymorphism	p.GLN417GLU	N/A
dbSNP	rs5771	Polymorphism	p.GLN317LYS	N/A
dbSNP	rs5768	Polymorphism	p.GLU161ASP	N/A
dbSNP	rs5760	Polymorphism	p.GLY390VAL	N/A
dbSNP	rs4529	Polymorphism	p.LEU357VAL	N/A
dbSNP	rs5769	Polymorphism	p.LYS258GLU	N/A
dbSNP	rs13306050	Polymorphism	p.PRO512LEU	N/A
dbSNP	rs5763	Polymorphism	p.THR451ASN	N/A
dbSNP	rs13306052	Polymorphism	p.VAL295MET	N/A
OMIM	274180.0004	Disease	p.ARG367GLU	GHOSAL HEMATODIAPHYSEAL SYNDROME
OMIM	274180.0003	Disease	p.GLY436TRP	GHOSAL HEMATODIAPHYSEAL SYNDROME
OMIM	274180.0001	Disease	p.LEU442PRO	GHOSAL HEMATODIAPHYSEAL SYNDROME
OMIM	274180.0002	Disease	p.LEU83PRO	GHOSAL HEMATODIAPHYSEAL SYNDROME

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