Hs05638812_cn

• Gene Symbol: CTPS2
• Assay Reference Genome Location: Chr.X:16612336 on build GRCh38
• Cytoband: Xp22.2

Target Gene Details

• Entrez Gene ID: 56474
• Gene Name: CTP synthase 2
• Gene Aliases: -
• Location: Chr.X:16587999-16712979 on Build GRCh38
• Assay Gene Location: Within Intron 20

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CTPS2	NM_001144002.1			NP_001137474.1
	NM_019857.4			NP_062831.3
	NM_175859.2			NP_787055.1
	XM_005274562.3			XP_005274619.1
	XM_006724503.3			XP_006724566.1
	XM_011545545.2			XP_011543847.1
	AF226667.1			AAF91241.1
	AK023549.1			BAB14607.1
	AK024070.1			BAB14814.1
	AK025654.1			BAB15204.1
	AK125332.1
	AK125348.1
	BC006256.2			AAH06256.2
	BC034986.1			AAH34986.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv6815	Chr.X:16609172 - 16640869 on Build GRCh38	Insertion	CTPS2 MIR548AM
esv3573611	Chr.X:16611081 - 16615893 on Build GRCh38	Loss	CTPS2

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

ligase

Gene Ontology Categories:

Process(es)

pyrimidine nucleotide metabolic process
glutamine metabolic process
nucleobase-containing small molecule interconversion
'de novo' CTP biosynthetic process

Function(s)

CTP synthase activity
protein binding
ATP binding