Hs04239582_cn

• Gene Symbol: GCFC2
• Assay Reference Genome Location: Chr.2:75674405 on build GRCh38
• Cytoband: 2p12

Target Gene Details

• Entrez Gene ID: 6936
• Gene Name: GC-rich sequence DNA-binding factor 2
• Gene Aliases: C2orf3, DNABF, GCF, TCF9
• Location: Chr.2:75662655-75710986 on Build GRCh38
• Assay Gene Location: Within Intron 12

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GCFC2	NM_001201334.1			NP_001188263.1
	NM_003203.4			NP_003194.3
	XM_005264520.3			XP_005264577.1
	XM_011533074.2			XP_011531376.1
	AB026911.1			BAA85386.1
	AK097564.1
	BC064559.1			AAH64559.1
	EF158468.1
	EF158469.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv706e214	Chr.2:75581910 - 75690050 on Build GRCh38	Gain	MRPL19 GCFC2
dgv20n14	Chr.2:75596036 - 75687909 on Build GRCh38	Gain	MRPL19 GCFC2
esv2759063	Chr.2:75462279 - 75785697 on Build GRCh38	Gain+Loss	MRPL19 LOC101927884 GCFC2 EVA1A
dgv152e55	Chr.2:75594376 - 75686819 on Build GRCh38	Gain	MRPL19 GCFC2
nsv514988	Chr.2:75632582 - 75690230 on Build GRCh38	Loss	MRPL19 GCFC2
dgv5n43	Chr.2:75591363 - 75680225 on Build GRCh38	Gain	MRPL19 GCFC2
nsv441762	Chr.2:75594779 - 75687246 on Build GRCh38	Gain	MRPL19 GCFC2
nsv819219	Chr.2:75662623 - 75689964 on Build GRCh38	Gain	GCFC2
nsv834263	Chr.2:75617574 - 75780540 on Build GRCh38	Gain	MRPL19 GCFC2
esv3303063	Chr.2:75593915 - 75690043 on Build GRCh38	Tandem Duplication	MRPL19 GCFC2

More Information

Additional Information:

For this assay, SNP(s) [rs76859449] 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 -

chromatin/chromatin-binding, or -regulatory protein

Gene Ontology Categories:

Process(es)

negative regulation of transcription from RNA polymerase II promoter
spliceosomal complex assembly
transcription, DNA-templated
regulation of transcription, DNA-templated
negative regulation of transcription, DNA-templated

Function(s)

RNA polymerase II core promoter proximal region sequence-specific DNA binding
transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding