Hs00566867_cn

• Gene Symbol: CA1
• Assay Reference Genome Location: Chr.8:85338327 on build GRCh38
• Cytoband: 8q21.2

Target Gene Details

• Entrez Gene ID: 759
• Gene Name: carbonic anhydrase 1
• Gene Aliases: CA-I, CAB, Car1, HEL-S-11
• Location: Chr.8:85328229-85378154 on Build GRCh38
• Assay Gene Location: Within Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CA1	NM_001128829.3	4	368	NP_001122301.1
	NM_001128830.3	4	370	NP_001122302.1
	NM_001128831.3	3	293	NP_001122303.1
	NM_001164830.1	2	239	NP_001158302.1
	NM_001291967.1			NP_001278896.1
	NM_001291968.1			NP_001278897.1
	NM_001738.4	4	347	NP_001729.1
	BC027890.1	3	244	AAH27890.1
	BP261967.1	2	239
	BU655910.1	3	252
	BU656154.1	4	335
	BU658617.1
	BU659301.1	4	329
	BU659695.1	4	335
	BU661390.1
	BU663330.1	3	303
	BU664306.1	2	202
	BU665210.1	2	188
	EU794595.1	4	306
	M33987.1	4	1207	AAA51910.1
	X05014.1	2	183	CAA28663.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv483126	Chr.8:83687766 - 85887771 on Build GRCh38	Gain+Loss	LOC101929601 E2F5 CA1 LOC100288562 RALYL REXO1L1P CA3-AS1 C8orf59 CA2 LOC107986879 LRRCC1 CA3 LOC101929627 CA13 LOC102723322 REXO1L2P

More Information

Additional Information:

For this assay, SNP(s) [rs77342877] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

one-carbon metabolic process
bicarbonate transport

Function(s)

arylesterase activity
carbonate dehydratase activity
protein binding
zinc ion binding
hydro-lyase activity