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See other BBOX1 CNV Assays ›
Gene Symbol
BBOX1
Assay Reference Genome
Location

Chr.11:27055414 on build GRCh38
Cytoband
11p14.2
Assay ID Hs01321561_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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Assay Details

Target Gene Details

Entrez Gene ID:

 8424

Gene Name:

 gamma-butyrobetaine hydroxylase 1

Gene Aliases:

 BBH, BBOX, G-BBH, gamma-BBH

Location:

 Chr.11:27040705-27127807 on Build GRCh38

Assay Gene Location:

 Overlaps Intron 4 - Exon 5
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
BBOX1 NM_003986.2 NP_003977.1
XM_005253159.2 XP_005253216.1
XM_005253160.2 XP_005253217.1
XM_005253161.2 XP_005253218.1
XM_011520402.1 XP_011518704.1
XM_017018403.1 XP_016873892.1
AF082868.1 AAC64066.1
AK290108.1
AK313422.1
BC011034.1 AAH11034.1
CR456812.1 CAG33093.1
DA268467.1
DQ471856.1
DQ471857.1
DQ471858.1 1 115
DQ471859.1 1 80
DQ471860.1 1 67
DQ471861.1 1 60
DQ471862.1 1 45
DQ471863.1
DQ471864.1 1 118
DQ471865.1 1 118
DQ471866.1 1 45
DQ471867.1 1 42
DQ471868.1

Target Gene Details

Entrez Gene ID:

 103695435

Gene Name:

 BBOX1 antisense RNA 1

Gene Aliases:

 -

Location:

 Chr.11:27047186-27220113 on Build GRCh38

Assay Gene Location:

 Within Intron 6
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
BBOX1-AS1 NR_125768.1
DA865512.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
dgv1727n54 Chr.11:26992485 - 27219404 on Build GRCh38 Gain BBOX1 BBOX1-AS1 FIBIN
esv3625759 Chr.11:26962165 - 27229739 on Build GRCh38 Gain BBOX1 BBOX1-AS1 FIBIN
nsv7720 Chr.11:27050452 - 27059150 on Build GRCh38 Deletion BBOX1 BBOX1-AS1
nsv508619 Chr.11:27006947 - 27089187 on Build GRCh38 Deletion BBOX1 BBOX1-AS1
esv3625760 Chr.11:26964078 - 27108838 on Build GRCh38 Gain BBOX1 BBOX1-AS1 FIBIN

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More Information


Set Membership:

 Intragenic Intronic Non-exonic DGV Variation

Panther Classification:

Molecular Function -

hydroxylase

Gene Ontology Categories:

Function(s) Process(es)


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