Results for the protein: Q9H1I8

Results for the Protein: Q9H1I8

92090990

84164

ASCC2

NCBI, UniProt

ASCC2_HUMAN RecName: Full=Activating signal cointegrator 1 complex subunit 2; AltName: Full=ASC-1 complex subunit p100; AltName: Full=Trip4 complex subunit p100

			0 14 0 6 8

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Default View: CUE - smart00546 CUE - pfam02845	Swiss-Prot Protein: Q9H1I8 Identical to: NP_115580 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
CUE	smart00546	2.1e-14	467	509

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs36571	Polymorphism	p.ALA423SER	N/A
dbSNP	rs1894473	Polymorphism	p.ALA96SER	N/A
Swiss-Prot	VAR_050675	Polymorphism	p.ARG96CYS	N/A
Swiss-Prot	VAR_019464	Polymorphism	p.ARG509GLN	N/A
dbSNP	rs61736786	Polymorphism	p.ARG571GLN	N/A
Swiss-Prot	VAR_025514	Polymorphism	p.ARG639LEU	N/A
Swiss-Prot	VAR_050677	Polymorphism	p.ASP546GLY	N/A
Swiss-Prot	VAR_025512	Polymorphism	p.ASP407HIS	N/A
Swiss-Prot	VAR_050678	Polymorphism	p.GLU588LYS	N/A
dbSNP	rs28265	Polymorphism	p.ILE407LEU	N/A
Swiss-Prot	VAR_025513	Polymorphism	p.PRO423SER	N/A
dbSNP	rs34062345	Polymorphism	p.PRO588THR	N/A
dbSNP	rs11549795	Polymorphism	p.SER123THR	N/A
Swiss-Prot	VAR_050676	Polymorphism	p.VAL123ILE	N/A

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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