Hs03929919_cn

• Gene Symbol: SF3B3
• Assay Reference Genome Location: Chr.16:70525450 on build GRCh38
• Cytoband: 16q22.1

Target Gene Details

• Entrez Gene ID: 23450
• Gene Name: splicing factor 3b subunit 3
• Gene Aliases: RSE1, SAP130, SF3b130, STAF130
• Location: Chr.16:70523788-70577668 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SF3B3	NM_012426.4			NP_036558.3
	AJ001443.1			CAB56791.1
	AK291768.1
	BC009780.1			AAH09780.1
	BC068974.1			AAH68974.1
	BI465052.1
	D87686.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3892881	Chr.16:70379334 - 70791080 on Build GRCh38	Gain	MTSS1L ST3GAL2 VAC14-AS1 SNORD111B FUK IL34 SF3B3 SNORD111 VAC14 COG4
nsv833272	Chr.16:70335866 - 70535820 on Build GRCh38	Loss	ST3GAL2 LOC100506083 SNORD111B FUK DDX19A SF3B3 COG4
esv3892883	Chr.16:70513090 - 70660097 on Build GRCh38	Gain	SNORD111B IL34 SF3B3 SNORD111 COG4

More Information

Additional Information:

For this assay, SNP(s) [rs146007943] 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

Panther Classification:

Molecular Function -

RNA processing factor

Gene Ontology Categories:

Process(es)

RNA splicing, via transesterification reactions
mRNA splicing, via spliceosome
mRNA processing
protein complex assembly
RNA splicing
negative regulation of protein catabolic process

Function(s)

RNA binding
protein binding