Assay Details
Target Gene Details
Entrez Gene ID: | 56898 |
Gene Name: | 3-hydroxybutyrate dehydrogenase, type 2 |
Gene Aliases: |
DHRS6, EFA6R, PRO20933, SDR15C1, UCPA-OR, UNQ6308 |
Location: |
Chr.4:103077618-103099867 on Build GRCh38 |
Assay Gene Location: | Within Intron 12 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
BDH2 | NM_020139.3 | NP_064524.3 | ||
XM_005263140.3 | XP_005263197.1 | |||
XM_006714274.3 | XP_006714337.1 | |||
XM_011532127.2 | XP_011530429.1 | |||
XM_011532128.2 | XP_011530430.1 | |||
XM_017008461.1 | XP_016863950.1 | |||
XM_017008462.1 | XP_016863951.1 | |||
AF164790.1 | AAF80754.1 | |||
AK023323.1 | BAB14526.1 | |||
AK128463.1 | ||||
AK290160.1 | ||||
AK300626.1 | ||||
AY358841.1 | AAQ89200.1 | |||
BC001953.1 | AAH01953.1 | |||
BC037277.2 | AAH37277.1 | |||
BC095414.1 | AAH95414.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv830021 | Chr.4:103013297 - 103179431 on Build GRCh38 | Loss | CENPE SLC9B1 SLC9B2 BDH2 |
esv2759270 | Chr.4:102859548 - 103136164 on Build GRCh38 | Gain | UBE2D3 CISD2 CENPE SLC9B1 SLC9B2 BDH2 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |