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See other BMP8B CNV Assays ›
Gene Symbol
BMP8B
Assay Reference Genome
Location

Chr.1:39784028 on build GRCh38
Cytoband
1p34.2
Assay ID Hs03358248_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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  • Genomic Map
  • Assay Details
  • More Information

Genomic Map

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Assay Details

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

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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:

Function(s) 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
cytokine activity
transforming growth factor beta receptor binding
growth factor activity
BMP receptor binding

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