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: | Within Exon 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
BBOX1 | NM_003986.2 | 2 | 237 | NP_003977.1 |
XM_005253159.2 | 2 | 485 | XP_005253216.1 | |
XM_005253160.2 | 2 | 485 | XP_005253217.1 | |
XM_005253161.2 | 2 | 237 | XP_005253218.1 | |
XM_011520402.1 | 2 | 485 | XP_011518704.1 | |
AK290108.1 | ||||
AK313422.1 | ||||
DA268467.1 | 2 | 238 | ||
DQ471856.1 | ||||
DQ471857.1 |
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 |
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esv3625759 | Chr.11:26962165 - 27229739 on Build GRCh38 | Gain |
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nsv508619 | Chr.11:27006947 - 27089187 on Build GRCh38 | Deletion |
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esv3625760 | Chr.11:26964078 - 27108838 on Build GRCh38 | Gain |
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![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)
More Information
Set Membership: |
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Panther Classification:
Gene Ontology Categories:
![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)