Hs06195570_cn

• Gene Symbol: SBSPON
• Assay Reference Genome Location: Chr.8:73074004 on build GRCh38
• Cytoband: 8q21.11

Target Gene Details

• Entrez Gene ID: 157869
• Gene Name: somatomedin B and thrombospondin type 1 domain containing
• Gene Aliases: C8orf84, RPESP
• Location: Chr.8:73063077-73093272 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SBSPON	NM_153225.3			NP_694957.3
	XM_017013145.1			XP_016868634.1
	AK292970.1
	AY040546.1			AAK83466.1
	BC042877.1			AAH42877.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2737154	Chr.8:71825978 - 73469084 on Build GRCh38	Deletion	C8orf89 TRPA1 STAU2 MSC-AS1 RDH10-AS1 KCNB2 TERF1 LOC101926908 RDH10 STAU2-AS1 LOC392232 SBSPON RPL7 MSC

More Information

Additional Information:

For this assay, SNP(s) [rs113604123] 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)

receptor-mediated endocytosis
immune response

Function(s)

scavenger receptor activity
polysaccharide binding