Hs03776609_cn

• Gene Symbol: CARNS1
• Assay Reference Genome Location: Chr.11:67418714 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 Intron 3 - Exon 4

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	TMEM134 CARNS1 GPR152 CABP4 CDK2AP2 PITPNM1 CORO1B AIP MIR6752 RPS6KB2 PTPRCAP
dgv1977n54	Chr.11:67397024 - 67521123 on Build GRCh38	Loss	TMEM134 GPR152 TBC1D10C CABP4 PITPNM1 AIP RAD9A RPS6KB2 CABP2 CARNS1 PPP1CA CDK2AP2 CORO1B MIR6752 PTPRCAP
dgv52n111	Chr.11:67362651 - 67521123 on Build GRCh38	Deletion	TMEM134 GPR152 TBC1D10C CABP4 PITPNM1 LOC100130987 AIP RAD9A RPS6KB2 CLCF1 CABP2 CARNS1 PPP1CA CDK2AP2 CORO1B MIR6752 PTPRCAP
nsv521723	Chr.11:67408221 - 67543787 on Build GRCh38	Loss	TMEM134 GPR152 TBC1D10C CABP4 PITPNM1 AIP RPS6KB2 CABP2 CARNS1 CDK2AP2 CORO1B MIR6752 PTPRCAP
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