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

Chr.1:39770475 on build GRCh38
Cytoband
1p34.2
Assay ID Hs07486124_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 5
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
BMP8B NM_001720.3 NP_001711.2
XM_011542022.2 XP_011540324.1
XM_011542024.2 XP_011540326.2
XM_017002155.1 XP_016857644.1
AY303955.1 AAP74560.1
BC108678.1 AAI08679.1

Target Gene Details

Entrez Gene ID:

64064

Gene Name:

3-oxoacid CoA-transferase 2

Gene Aliases:

FKSG25, SCOTT

Location:

Chr.1:39769525-39771348 on Build GRCh38

Assay Gene Location:

Within Exon 1
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
OXCT2 NM_022120.1 1 874 NP_071403.1
AB050193.2 1 800
AK093089.1 1 848
AK314586.1 1 781
AY013700.1 1 874 AAG33922.1

Target Copy Number Variation Details

DGV Version:

Release date: 2016-05-15, GRCh GRCh38
Target
Variation
Location CNV
Subtype
Genes
nsv945895 Chr.1:39767760 - 39776036 on Build GRCh38 Duplication BMP8B OXCT2
esv2758933 Chr.1:39759471 - 40194760 on Build GRCh38 Loss RLF MFSD2A LOC101929536 BMP8B PPIE PPT1 OXCT2 CAP1 MYCL TRIT1
dgv152n100 Chr.1:39693156 - 39800418 on Build GRCh38 Gain LOC101929536 BMP8B PPIE OXCT2
nsv950654 Chr.1:39760129 - 39775928 on Build GRCh38 Deletion BMP8B PPIE OXCT2
dgv153n100 Chr.1:39715819 - 39848248 on Build GRCh38 Gain LOC101929536 BMP8B PPIE OXCT2 TRIT1
nsv546063 Chr.1:39719061 - 39841226 on Build GRCh38 Gain LOC101929536 BMP8B PPIE OXCT2 TRIT1

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More Information


Set Membership:

Intragenic Exonic Intronic Non-exonic DGV Variation

Panther Classification:

Molecular Function -

growth factor transferase

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
ketone body catabolic process
cytokine activity
transforming growth factor beta receptor binding
growth factor activity
BMP receptor binding
3-oxoacid CoA-transferase activity

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