Hs00680823_cn

• Gene Symbol: C20orf78
• Assay Reference Genome Location: Chr.20:18814240 on build GRCh38
• Cytoband: 20p11.23

Target Gene Details

• Entrez Gene ID: 100128496
• Gene Name: chromosome 20 open reading frame 78
• Gene Aliases: dJ1068E13.1
• Location: Chr.20:18809351-18830203 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
C20orf78	NM_001242671.2			NP_001229600.1
	NM_001302818.1			NP_001289747.1
	AW118618.1
	BX112808.1
	BX334499.2
	HY016900.1
	HY050710.1

Target Gene Details

• Entrez Gene ID: 140856
• Gene Name: SCP2 sterol binding domain containing 1
• Gene Aliases: C20orf79, HSD22, dJ1068E13.2
• Location: Chr.20:18813726-18814392 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SCP2D1	NM_178483.2	1	515	NP_848578.1
	AF418568.1	1	515	AAP97287.1
	AF418570.1	1	515	AAP97289.1
	AK130970.1	1	511
	AY248902.1	1	472	AAP20053.1
	BC105121.1	1	457	AAI05122.1
	BC112024.1	1	457	AAI12025.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv833934	Chr.20:18778246 - 18958077 on Build GRCh38	Loss	C20orf78 LINC00652 LOC100270804 SCP2D1

More Information

• Set Membership: Intragenic, Exonic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

transfer/carrier protein

Gene Ontology Categories:

Process(es)

steroid biosynthetic process
phospholipid transport
cholesterol transport

Function(s)

sterol transporter activity
sterol binding