Hs00743564_cn

• Gene Symbol: PRRT2
• Assay Reference Genome Location: Chr.16:29814451 on build GRCh38
• Cytoband: 16p11.2

Target Gene Details

• Entrez Gene ID: 112476
• Gene Name: proline rich transmembrane protein 2
• Gene Aliases: BFIC2, BFIS2, DSPB3, DYT10, EKD1, FICCA, ICCA, IFITMD1, PKC
• Location: Chr.16:29811856-29815920 on Build GRCh38
• Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PRRT2	NM_001256442.1	3	1299	NP_001243371.1
	NM_001256443.1	2	1726	NP_001243372.1
	NM_145239.2			NP_660282.2
	XM_011545715.2	3	1228	XP_011544017.1
	XM_011545716.2	3	1244	XP_011544018.1
	XM_017022887.1			XP_016878376.1
	XM_017022888.1			XP_016878377.1
	XM_017022889.1			XP_016878378.1
	AK074572.1	3	1193	BAC11067.1
	AK092265.1	2	1571	BAC03843.1
	AK098379.1
	AK225785.1
	AK292393.1	3	1196
	AL834185.1			CAD38881.1
	BC011405.1			AAH11405.1
	BC053594.1			AAH53594.1
	DA346262.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv953800	Chr.16:29804780 - 29816179 on Build GRCh38	Deletion	PRRT2 MAZ KIF22
nsv833186	Chr.16:29719552 - 29863674 on Build GRCh38	Loss	MVP ZG16 C16orf54 PRRT2 MAZ KIF22 PAGR1 CDIPT
nsv827610	Chr.16:29808186 - 29818225 on Build GRCh38	Gain	PRRT2 MAZ PAGR1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

response to biotic stimulus
neuromuscular process controlling posture