PCDH17 (Entrez ID: 27253)

Entrez Gene ID	27253
Official Gene Symbol	PCDH17 (GeneCards)
Full name	protocadherin 17
Location	13q21.1
Other ids	Vega : OTTHUMG00000016992 MIM : 611760 HGNC : HGNC:14267 Ensembl : ENSG00000118946
Other names	PCH68, PCDH68
Summary	This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein contains six extracellular cadherin domains, a transmembrane domain, and a cytoplasmic tail differing from those of the classical cadherins. The encoded protein may play a role in the establishment and function of specific cell-cell connections in the brain. [provided by RefSeq, Jul 2008]

Variants

Found 7 variants in this database.

Variant ID	Entrez Gene ID	Gene	Chromsome	Start	End	Disease	Method
17158	27253	PCDH17	13	58215019	58215019	Asymptomatic	HiSeq X Ten
17605	27253	PCDH17	13	58649632	58649632	Asymptomatic	HiSeq X Ten
17639	27253	PCDH17	13	58549901	58549901	Asymptomatic	HiSeq X Ten
17893	27253	PCDH17	13	58282073	58282073	Cockayne syndrome	HiSeq X Ten
17983	27253	PCDH17	13	58660144	58660144	Xeroderma Pigmentosum	HiSeq X Ten
27681	27253	PCDH17	13	58426579	58426579	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
29870	27253	PCDH17	13	58240856	58240856	Autism Spectrum Disorders	HiSeq X Ten Single cell Sequencing Cell cloning NextSeq500