Results for the protein: NP

Results for the Protein: NP_055800

110347568

22995

CEP152

NCBI

centrosomal protein of 152 kDa isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE
SECKEL SYNDROME 5

4

4

4

4

0

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Default View:	RefSeq Protein: NP_055800 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs16961560	Polymorphism	p.LEU914VAL	N/A
dbSNP	rs2289178	Polymorphism	p.SER793ILE	N/A
dbSNP	rs2289181	Polymorphism	p.SER54LEU	N/A
dbSNP	rs16961557	Polymorphism	p.VAL1106ALA	N/A
OMIM	613529.0002	Disease	p.ARG987TER	MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE
OMIM	613529.0001	Disease	p.GLN265PRO	MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE
OMIM	613529.0007	Disease	p.LYS667ARG	SECKEL SYNDROME 5
OMIM	613529.0004	Disease	p.TYR678TER	SECKEL SYNDROME 5

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