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 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
BBOX1 | NM_003986.2 | NP_003977.1 | ||
XM_005253159.2 | 1 | 265 | XP_005253216.1 | |
XM_005253160.2 | 1 | 265 | XP_005253217.1 | |
XM_005253161.2 | XP_005253218.1 | |||
XM_011520402.1 | 1 | 265 | XP_011518704.1 | |
DA268467.1 |
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 FIBIN BBOX1-AS1 |
esv3625759 | Chr.11:26962165 - 27229739 on Build GRCh38 | Gain | BBOX1 FIBIN BBOX1-AS1 |
nsv508619 | Chr.11:27006947 - 27089187 on Build GRCh38 | Deletion | BBOX1 BBOX1-AS1 |
esv3625760 | Chr.11:26964078 - 27108838 on Build GRCh38 | Gain | BBOX1 FIBIN BBOX1-AS1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |