Hs00450968_cn

• Gene Symbol: ARV1
• Assay Reference Genome Location: Chr.1:231000320 on build GRCh38
• Cytoband: 1q42.2

Target Gene Details

• Entrez Gene ID: 64801
• Gene Name: ARV1 homolog, fatty acid homeostasis modulator
• Gene Aliases: -
• Location: Chr.1:230979075-231000733 on Build GRCh38
• Assay Gene Location: Within Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ARV1	NM_022786.1	6	1032	NP_073623.1
	XM_017002106.1	7	1126	XP_016857595.1
	AF271780.1	6	1032	AAG44791.1
	AF290878.1	6	1032	AAG47671.1
	AF321442.1	6	1066	AAK11180.1
	AL122047.1	3	431	CAB59183.3
	BC016309.1	6	1027	AAH16309.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3589093	Chr.1:230482037 - 231277190 on Build GRCh38	Gain	C1orf131 TRIM67 GNPAT COG2 MIR1182 C1orf198 AGT TTC13 ARV1 LOC101927604 LOC149373 LOC101927553 FAM89A CAPN9
nsv1011066	Chr.1:230940432 - 231242850 on Build GRCh38	Gain	ARV1 C1orf131 TRIM67 GNPAT MIR1182 LOC149373 FAM89A TTC13
nsv1000488	Chr.1:230799658 - 231269735 on Build GRCh38	Gain	ARV1 C1orf131 TRIM67 GNPAT LOC101927604 MIR1182 C1orf198 LOC149373 FAM89A CAPN9 TTC13

More Information

Additional Information:

For this assay, SNP(s) [rs73110133] 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)

sphingolipid metabolic process
cholesterol biosynthetic process
bile acid metabolic process
sterol metabolic process
cholesterol transport
intracellular sterol transport
regulation of cholesterol metabolic process
regulation of plasma membrane sterol distribution

Function(s)

sterol transporter activity