Hs03358248_cn

• Gene Symbol: BMP8B
• Assay Reference Genome Location: Chr.1:39784028 on build GRCh38
• Cytoband: 1p34.2

Target Gene Details

• Entrez Gene ID: 656
• Gene Name: bone morphogenetic protein 8b
• Gene Aliases: BMP8, OP2
• Location: Chr.1:39757182-39788861 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
BMP8B	NM_001720.3			NP_001711.2
	XM_005271149.4			XP_005271206.1
	XM_011542022.2			XP_011540324.1
	XM_011542024.2			XP_011540326.2
	XM_011542025.2			XP_011540327.1
	XM_017002155.1			XP_016857644.1
	XM_017002156.1			XP_016857645.1
	AY303955.1			AAP74560.1
	BC108678.1			AAI08679.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2758933	Chr.1:39759471 - 40194760 on Build GRCh38	Loss	CAP1 PPIE RLF LOC101929536 MFSD2A PPT1 BMP8B TRIT1 MYCL OXCT2
dgv152n100	Chr.1:39693156 - 39800418 on Build GRCh38	Gain	PPIE LOC101929536 BMP8B OXCT2
dgv153n100	Chr.1:39715819 - 39848248 on Build GRCh38	Gain	PPIE LOC101929536 BMP8B TRIT1 OXCT2
nsv546063	Chr.1:39719061 - 39841226 on Build GRCh38	Gain	PPIE LOC101929536 BMP8B TRIT1 OXCT2

More Information

Additional Information:

For this assay, SNP(s) [rs75709963] 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 -

growth factor

Gene Ontology Categories:

Process(es)

skeletal system development
ossification
positive regulation of pathway-restricted SMAD protein phosphorylation
BMP signaling pathway
growth
regulation of apoptotic process
regulation of MAPK cascade
cell development
cartilage development
SMAD protein signal transduction

Function(s)

cytokine activity
transforming growth factor beta receptor binding
growth factor activity
BMP receptor binding