Hs00167855_cn

• Gene Symbol: CNST
• Assay Reference Genome Location: Chr.1:246566675 on build GRCh38
• Cytoband: 1q44

Target Gene Details

• Entrez Gene ID: 163882
• Gene Name: consortin, connexin sorting protein
• Gene Aliases: C1orf71, PPP1R64
• Location: Chr.1:246566337-246668587 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CNST	NM_001139459.1	1	339	NP_001132931.1
	NM_152609.2			NP_689822.2
	XM_005273083.4			XP_005273140.1
	XM_011544111.1	1	235	XP_011542413.1
	XM_011544112.1			XP_011542414.1
	XM_011544113.1	1	113	XP_011542415.1
	XM_011544114.2			XP_011542416.1
	XM_017000487.1			XP_016855976.1
	XM_017000488.1			XP_016855977.1
	XM_017000489.1	1	113	XP_016855978.1
	AK056563.1			BAB71218.1
	AK074142.1			BAB84968.1
	AL834246.2			CAD38922.2
	BC010228.2	1	215	AAH10228.1
	BC036200.1			AAH36200.1
	BX647629.1
	DA461531.1
	DA994539.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv33n21	Chr.1:246533294 - 246584284 on Build GRCh38	Gain	CNST TFB2M
esv3589483	Chr.1:246563151 - 246571010 on Build GRCh38	Gain	CNST TFB2M
nsv1010453	Chr.1:246482495 - 246651750 on Build GRCh38	Gain	CNST TFB2M SMYD3 LOC255654
nsv528615	Chr.1:246545165 - 246680013 on Build GRCh38	Gain	CNST TFB2M
esv2762191	Chr.1:246383134 - 246651762 on Build GRCh38	Gain	CNST TFB2M SMYD3 LOC255654
nsv428346	Chr.1:246243844 - 246577642 on Build GRCh38	Gain	CNST TFB2M SMYD3 LOC255654
nsv5254	Chr.1:246550058 - 246584620 on Build GRCh38	Insertion	CNST TFB2M

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

negative regulation of phosphatase activity
positive regulation of Golgi to plasma membrane protein transport

Function(s)

protein binding
phosphatase binding
connexin binding