Hs02283723_cn

• Gene Symbol: AAR2
• Assay Reference Genome Location: Chr.20:36240473 on build GRCh38
• Cytoband: 20q11.23

Target Gene Details

• Entrez Gene ID: 25980
• Gene Name: AAR2 splicing factor homolog
• Gene Aliases: C20orf4, CGI-23
• Location: Chr.20:36236136-36256941 on Build GRCh38
• Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AAR2	NM_001271874.1	2	740	NP_001258803.1
	NM_015511.4	2	1019	NP_056326.2
	XM_006723770.3	3	1456	XP_006723833.1
	XM_011528762.2	3	830	XP_011527064.1
	XM_011528763.2	3	1099	XP_011527065.1
	AF132957.1	1	660	AAD27732.1
	AL117419.1	2	680	CAB55913.1
	BC001751.1	1	667	AAH01751.1
	BC019311.1	2	911	AAH19311.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv833965	Chr.20:36085697 - 36284604 on Build GRCh38	Loss	AAR2 EPB41L1
nsv1066673	Chr.20:35840156 - 36398197 on Build GRCh38	Loss	NORAD DLGAP4 AAR2 CNBD2 EPB41L1 PHF20 SCAND1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

RNA metabolism protein, RNA processing factor, RNA splicing factor, nucleic acid metabolism protein

Gene Ontology Categories:

Process(es)

spliceosomal tri-snRNP complex assembly