Hs04066897_cn

• Gene Symbol: RRP1
• Assay Reference Genome Location: Chr.21:43800198 on build GRCh38
• Cytoband: 21q22.3

Target Gene Details

• Entrez Gene ID: 8568
• Gene Name: ribosomal RNA processing 1
• Gene Aliases: D21S2056E, NNP-1, NOP52, RRP1A
• Location: Chr.21:43789537-43804102 on Build GRCh38
• Assay Gene Location: Within Intron 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RRP1	NM_003683.5			NP_003674.1
	XM_017028485.1			XP_016883974.1
	XM_017028486.1			XP_016883975.1
	AK223185.1			BAD96905.1
	AK223215.1			BAD96935.1
	AK303000.1
	AK313116.1
	AL137757.1			CAB70909.1
	AY033999.1			AAK57542.1
	BC000380.2			AAH00380.1
	BC014787.1			AAH14787.2
	BI223794.1
	U79775.1			AAC51625.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv587718	Chr.21:43791051 - 43832957 on Build GRCh38	Loss	RRP1 AATBC
nsv509799	Chr.21:43724009 - 43852846 on Build GRCh38	Insertion	PDXK RRP1 CSTB AATBC LOC105372824
nsv834108	Chr.21:43758156 - 43949760 on Build GRCh38	Loss	PDXK RRP1 CSTB AATBC AGPAT3
nsv587719	Chr.21:43798559 - 43849960 on Build GRCh38	Loss	RRP1 AATBC
nsv834107	Chr.21:43735444 - 43874665 on Build GRCh38	Loss	PDXK RRP1 CSTB AATBC AGPAT3 LOC105372824
nsv953642	Chr.21:43731220 - 43827719 on Build GRCh38	Deletion	PDXK RRP1 CSTB AATBC LOC105372824
nsv470904	Chr.21:43731164 - 43838166 on Build GRCh38	Loss	PDXK RRP1 CSTB AATBC LOC105372824
nsv520305	Chr.21:43756077 - 43826445 on Build GRCh38	Loss	PDXK RRP1 CSTB AATBC
esv33817	Chr.21:43749531 - 44647625 on Build GRCh38	Loss	RRP1 ICOSLG C21orf33 KRTAP10-4 AIRE TRPM2 KRTAP10-8 PDXK PWP2 LOC100505727 TSPEAR-AS2 CSTB LOC105372833 C21orf2 DNMT3L KRTAP10-3 LRRC3 KRTAP10-1 KRTAP10-6 AATBC AGPAT3 TSPEAR-AS1 KRTAP10-5 TSPEAR KRTAP10-2 TRAPPC10 KRTAP10-9 LRRC3-AS1 KRTAP10-7 TRPM2-AS KRTAP10-10 PFKL KRTAP10-11

More Information

Additional Information:

For this assay, SNP(s) [rs200831669,rs566016022] 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, Intronic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

rRNA processing

Function(s)

poly(A) RNA binding