Hs03768252_cn

• Gene Symbol: CARNS1
• Assay Reference Genome Location: Chr.11:67422811 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: Within Exon 9

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	8	3821	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	PTPRCAP MIR6752 AIP CABP4 PITPNM1 RPS6KB2 CARNS1 GPR152 CDK2AP2 CORO1B TMEM134
dgv1977n54	Chr.11:67397024 - 67521123 on Build GRCh38	Loss	PTPRCAP TBC1D10C MIR6752 RPS6KB2 RAD9A CARNS1 GPR152 CDK2AP2 TMEM134 PPP1CA AIP CABP4 PITPNM1 CORO1B CABP2
dgv52n111	Chr.11:67362651 - 67521123 on Build GRCh38	Deletion	CLCF1 PTPRCAP TBC1D10C MIR6752 LOC100130987 RPS6KB2 RAD9A CARNS1 GPR152 CDK2AP2 TMEM134 PPP1CA AIP CABP4 PITPNM1 CORO1B CABP2
nsv521723	Chr.11:67408221 - 67543787 on Build GRCh38	Loss	PTPRCAP TBC1D10C MIR6752 RPS6KB2 CARNS1 GPR152 CDK2AP2 TMEM134 AIP CABP4 PITPNM1 CORO1B CABP2
nsv555255	Chr.11:67410326 - 67423978 on Build GRCh38	Loss	CARNS1

More Information

• Set Membership: Intragenic, 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