Hs04244346_cn

• Gene Symbol: EAF2
• Assay Reference Genome Location: Chr.3:121845781 on build GRCh38
• Cytoband: 3q13.33

Target Gene Details

• Entrez Gene ID: 55840
• Gene Name: ELL associated factor 2
• Gene Aliases: BM040, TRAITS, U19
• Location: Chr.3:121835180-121886526 on Build GRCh38
• Assay Gene Location: Within Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EAF2	NM_001320041.1			NP_001306970.1
	NM_018456.5			NP_060926.2
	XM_005247618.3			XP_005247675.1
	XM_017006861.1			XP_016862350.1
	XM_017006862.1			XP_016862351.1
	XM_017006863.1			XP_016862352.1
	AF217516.1			AAF67627.1
	AF517829.1			AAO63811.1
	AK301560.1
	AY049020.1			AAL12223.1
	BC014209.2			AAH14209.1
	HY005912.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv516233	Chr.3:121700454 - 121951558 on Build GRCh38	Gain+Loss	EAF2 GOLGB1 SLC15A2 IQCB1
esv33139	Chr.3:121781553 - 122372984 on Build GRCh38	Loss	EAF2 CD86 CSTA CASR ILDR1 SLC15A2 CCDC58 IQCB1

More Information

Additional Information:

For this assay, SNP(s) [rs36050562] 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)

transcription from RNA polymerase II promoter
apoptotic process
negative regulation of cell growth
positive regulation of transcription from RNA polymerase II promoter
negative regulation of epithelial cell proliferation involved in prostate gland development

Function(s)

RNA polymerase II regulatory region sequence-specific DNA binding
transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding
protein binding