Hs03794848_cn

• Gene Symbol: CARNS1
• Assay Reference Genome Location: Chr.11:67419703 on build GRCh38
• Cytoband: 11q13.2

Target Gene Details

• Entrez Gene ID: 57571
• Gene Name: carnosine synthase 1
• Gene Aliases: ATPGD1
• Location: Chr.11:67415678-67425607 on Build GRCh38
• Assay Gene Location: Overlaps Exon 5 - Intron 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CARNS1	NM_001166222.1			NP_001159694.1
	NM_020811.1			NP_065862.1
	XM_011545189.2			XP_011543491.1
	XM_011545191.2			XP_011543493.1
	XM_017018054.1			XP_016873543.1
	XM_017018055.1			XP_016873544.1
	AB037815.1
	AK294035.1
	AK295331.1
	EF560746.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv468604	Chr.11:67418529 - 67516420 on Build GRCh38	Loss	RPS6KB2 PITPNM1 AIP MIR6752 CDK2AP2 TMEM134 PTPRCAP CABP4 GPR152 CARNS1 CORO1B
dgv1977n54	Chr.11:67397024 - 67521123 on Build GRCh38	Loss	PPP1CA RPS6KB2 CDK2AP2 TMEM134 PTPRCAP GPR152 CORO1B TBC1D10C RAD9A CABP2 PITPNM1 AIP MIR6752 CABP4 CARNS1
dgv52n111	Chr.11:67362651 - 67521123 on Build GRCh38	Deletion	PPP1CA RPS6KB2 CDK2AP2 TMEM134 PTPRCAP LOC100130987 GPR152 CORO1B TBC1D10C RAD9A CLCF1 CABP2 PITPNM1 AIP MIR6752 CABP4 CARNS1
nsv521723	Chr.11:67408221 - 67543787 on Build GRCh38	Loss	RPS6KB2 CDK2AP2 TMEM134 PTPRCAP GPR152 CORO1B TBC1D10C CABP2 PITPNM1 AIP MIR6752 CABP4 CARNS1
nsv555255	Chr.11:67410326 - 67423978 on Build GRCh38	Loss	CARNS1

More Information

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

Gene Ontology Categories:

Process(es)

histidine catabolic process
carnosine biosynthetic process

Function(s)

ATP binding
ATPase activity
metal ion binding
carnosine synthase activity