Hs01526066_cn

• Gene Symbol: RIBC2
• Assay Reference Genome Location: Chr.22:45431059 on build GRCh38
• Cytoband: 22q13.31

Target Gene Details

• Entrez Gene ID: 26150
• Gene Name: RIB43A domain with coiled-coils 2
• Gene Aliases: C22orf11, TRIB
• Location: Chr.22:45413691-45432422 on Build GRCh38
• Assay Gene Location: Overlaps Exon 9 - Intron 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RIBC2	NM_015653.4			NP_056468.3
	XM_005261524.4			XP_005261581.1
	XM_011530126.2			XP_011528428.1
	AK098586.1
	AK225722.1
	AL050075.1			CAB43258.1
	AL442116.1			CAC09526.1
	BC003024.1			AAH03024.1
	BC009904.2			AAH09904.1
	CR456438.1			CAG30324.1
	CR457398.1			CAG33679.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3647932	Chr.22:45418035 - 45484463 on Build GRCh38	Gain	RIBC2
nsv1066204	Chr.22:45254728 - 45870451 on Build GRCh38	Gain	MIR4762 LINC01589 RIBC2 SMC1B FBLN1 LOC105373065 UPK3A ATXN10 FAM118A
nsv3651	Chr.22:45403708 - 45435552 on Build GRCh38	Insertion	RIBC2 SMC1B
nsv834221	Chr.22:45383909 - 45578311 on Build GRCh38	Loss	RIBC2 SMC1B FBLN1
esv3647931	Chr.22:45382351 - 45517601 on Build GRCh38	Gain	RIBC2 SMC1B FBLN1
esv34218	Chr.22:45254944 - 45515710 on Build GRCh38	Gain	RIBC2 SMC1B FBLN1 LOC105373065 UPK3A FAM118A
esv3893490	Chr.22:45425835 - 45450591 on Build GRCh38	Gain	RIBC2
nsv9921	Chr.22:45247876 - 45514132 on Build GRCh38	Gain+Loss	RIBC2 SMC1B FBLN1 LOC105373065 UPK3A FAM118A
esv2758843	Chr.22:45178343 - 45529286 on Build GRCh38	Gain	KIAA0930 RIBC2 SMC1B FBLN1 LOC105373065 MIR1249 NUP50 UPK3A FAM118A
esv3647921	Chr.22:45247581 - 45517162 on Build GRCh38	Gain	RIBC2 SMC1B FBLN1 LOC105373065 UPK3A FAM118A

More Information

Additional Information:

For this assay, SNP(s) [rs116476237] 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, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

cytoskeletal protein

Gene Ontology Categories:

Function(s)

protein binding