Hs01166550_cn

• Gene Symbol: SF3A2
• Assay Reference Genome Location: Chr.19:2248587 on build GRCh38
• Cytoband: 19p13.3

Target Gene Details

• Entrez Gene ID: 8175
• Gene Name: splicing factor 3a subunit 2
• Gene Aliases: PRP11, PRPF11, SAP62, SF3a66
• Location: Chr.19:2236817-2248679 on Build GRCh38
• Assay Gene Location: Within Exon 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SF3A2	NM_007165.4	9	1558	NP_009096.2
	AK314815.1
	BC004434.1	9	1528	AAH04434.1
	BC009903.2	9	1551	AAH09903.1
	BC015804.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv578382	Chr.19:2194897 - 2260362 on Build GRCh38	Loss	LOC105372239 DOT1L AMH JSRP1 SF3A2 MIR1227 MIR6789 PLEKHJ1 MIR4321
dgv6218n54	Chr.19:2221793 - 2336009 on Build GRCh38	Loss	LOC105372239 SPPL2B MIR4321 DOT1L AMH JSRP1 C19orf35 SF3A2 MIR1227 LINGO3 MIR6789 PLEKHJ1 OAZ1 LSM7
nsv833706	Chr.19:2131211 - 2249764 on Build GRCh38	Loss	AP3D1 LOC105372239 DOT1L AMH SF3A2 MIR1227 MIR6789 PLEKHJ1
nsv578383	Chr.19:2214058 - 2285197 on Build GRCh38	Loss	LOC105372239 DOT1L AMH JSRP1 C19orf35 SF3A2 MIR1227 MIR6789 PLEKHJ1 OAZ1 MIR4321
nsv833707	Chr.19:2187092 - 2372223 on Build GRCh38	Loss	LOC105372239 SPPL2B MIR4321 DOT1L AMH JSRP1 C19orf35 SF3A2 MIR1227 LINGO3 MIR6789 PLEKHJ1 OAZ1 LSM7

More Information

Additional Information:

For this assay, SNP(s) [rs146914547] 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

Panther Classification:

Molecular Function -

RNA splicing factor

Gene Ontology Categories:

Process(es)

mRNA 3'-splice site recognition
mRNA splicing, via spliceosome
mRNA processing
RNA splicing
positive regulation of neuron projection development

Function(s)

protein binding
zinc ion binding
poly(A) RNA binding