Hs04399352_cn

• Gene Symbol: CARNS1
• Assay Reference Genome Location: Chr.11:67417548 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 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CARNS1	NM_001166222.1	3	255	NP_001159694.1
	NM_020811.1	2	228	NP_065862.1
	XM_011545189.2	2	545	XP_011543491.1
	XM_011545191.2	1	1757	XP_011543493.1
	XM_017018054.1	2	1459	XP_016873543.1
	XM_017018055.1	1	829	XP_016873544.1
	AB037815.1	1	1353
	AK294035.1	3	255
	AK295331.1	2	1459
	EF560746.1	2	233

Target Copy Number Variation Details

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

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