Hs04582771_cn

• Gene Symbol: SP3
• Assay Reference Genome Location: Chr.2:173925956 on build GRCh38
• Cytoband: 2q31.1

Target Gene Details

• Entrez Gene ID: 6670
• Gene Name: Sp3 transcription factor
• Gene Aliases: SPR2
• Location: Chr.2:173906459-173965702 on Build GRCh38
• Assay Gene Location: Within Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SP3	NM_001017371.4			NP_001017371.3
	NM_001172712.1			NP_001166183.1
	NM_003111.4			NP_003102.1
	AB209334.1			BAD92571.1
	AK304199.1
	AY070137.1			AAL58088.1
	AY441957.1			AAR30505.1
	AY441958.1			AAR30506.1
	BC042945.2			AAH42945.2
	BC126414.1
	BC143928.1
	M97191.2			AAA36630.2
	X68560.1			CAA48562.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv751e214	Chr.2:173920627 - 173932730 on Build GRCh38	Loss	SP3
nsv953518	Chr.2:173922873 - 173963172 on Build GRCh38	Duplication	SP3
esv3593394	Chr.2:173921104 - 173932730 on Build GRCh38	Gain	SP3

More Information

Additional Information:

For this assay, SNP(s) [rs73028236,rs73028237] 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 -

C2H2 zinc finger transcription factor

Gene Ontology Categories:

Process(es)

negative regulation of transcription from RNA polymerase II promoter
ossification
natural killer cell differentiation
trophectodermal cell differentiation
liver development
embryonic placenta development
transcription, DNA-templated
regulation of transcription, DNA-templated
protein sumoylation
B cell differentiation
T cell differentiation
megakaryocyte differentiation
monocyte differentiation
lung development
granulocyte differentiation
enucleate erythrocyte differentiation
negative regulation of transcription, DNA-templated
positive regulation of transcription, DNA-templated
positive regulation of transcription from RNA polymerase II promoter
embryonic camera-type eye morphogenesis
embryonic skeletal system development
embryonic process involved in female pregnancy
definitive hemopoiesis

Function(s)

RNA polymerase II regulatory region sequence-specific DNA binding
RNA polymerase II core promoter sequence-specific DNA binding
RNA polymerase II transcription factor activity, sequence-specific DNA binding
core promoter proximal region sequence-specific DNA binding
transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding
chromatin binding
protein binding
metal ion binding