Results for the protein: Q6P0N0

Results for the Protein: Q6P0N0

68052324

55320

MIS18BP1

NCBI, UniProt

M18BP_HUMAN RecName: Full=Mis18-binding protein 1; AltName: Full=Kinetochore-associated protein KNL-2 homolog; Short=HsKNL-2; AltName: Full=P243

			0 6 0 4 2

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Default View: SANTA - pfam09133 SANT - smart00717	Swiss-Prot Protein: Q6P0N0 Identical to: NP_060823 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
SANT	smart00717	1e-07	877	928

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs34862991	Polymorphism	p.ARG355GLN	N/A
dbSNP	rs61741592	Polymorphism	p.ARG510GLN	N/A
Swiss-Prot	VAR_050184	Polymorphism	p.CYS164ARG	N/A
dbSNP	rs34101857	Polymorphism	p.GLU583ASP	N/A
dbSNP	rs34402741	Polymorphism	p.GLU851GLN	N/A
Swiss-Prot	VAR_050185	Polymorphism	p.PRO347ARG	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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