Hs02417226_cn

• Gene Symbol: CTPS2
• Assay Reference Genome Location: Chr.X:16654533 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 17

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 Gene Details

• Entrez Gene ID: 795
• Gene Name: S100 calcium binding protein G
• Gene Aliases: CABP, CABP1, CABP9K, CALB3
• Location: Chr.X:16649787-16654674 on Build GRCh38
• Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
S100G	NM_004057.2	3	318	NP_004048.1
	XM_017029841.1	3	785	XP_016885330.1
	BC112174.1			AAI12175.1
	L13220.1	3	321	AAA35638.1
	X65869.1	3	318	CAA46699.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv6816	Chr.X:16650590 - 16681559 on Build GRCh38	Insertion	CTPS2 S100G

More Information

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

Panther Classification:

Molecular Function -

ligase, calmodulin-related

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
vitamin D binding
calcium ion binding