Assay Details
Target Gene Details
Entrez Gene ID: | 8630 |
Gene Name: | hydroxysteroid 17-beta dehydrogenase 6 |
Gene Aliases: |
HSE, RODH, SDR9C6 |
Location: |
Chr.12:56752449-56787790 on Build GRCh38 |
Assay Gene Location: | Within Intron 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
HSD17B6 | NM_003725.3 | NP_003716.2 | ||
XM_005269207.1 | XP_005269264.1 | |||
XM_005269208.1 | XP_005269265.1 | |||
XM_005269209.1 | XP_005269266.1 | |||
XM_006719672.1 | XP_006719735.1 | |||
XM_011538925.1 | XP_011537227.1 | |||
XM_011538926.1 | XP_011537228.1 | |||
XM_011538927.1 | XP_011537229.1 | |||
AF016509.1 | AAB67236.1 | |||
AF223225.1 | AAF81017.1 | |||
AK313423.1 | ||||
BC020710.1 | AAH20710.1 | |||
U89281.1 | AAB88252.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv482992 | Chr.12:56206217 - 57706217 on Build GRCh38 | Gain+Loss | MIR1228 NABP2 PRIM1 GLS2 HSD17B6 OS9 PIP4K2C STAC3 MIR616 STAT2 IL23A SNORD59A DDIT3 NXPH4 MIP ZBTB39 TIMELESS MYO1A R3HDM2 RNF41 MBD6 NEMP1 KIF5A GLI1 DCTN2 GPR182 CS PTGES3 MIR6758 SLC39A5 BAZ2A APOF DTX3 PAN2 LOC101927583 RDH16 LRP1-AS CNPY2 MARS SLC26A10 SHMT2 ANKRD52 ARHGEF25 LRP1 HBCBP SPRYD4 NAB2 ATP5B INHBC ARHGAP9 SNORD59B STAT6 TAC3 NACA NDUFA4L2 SDR9C7 COQ10A B4GALNT1 INHBE SNORA105C RBMS2 |
esv3629600 | Chr.12:56762971 - 56780702 on Build GRCh38 | Loss | HSD17B6 |
esv2667772 | Chr.12:56763048 - 56780839 on Build GRCh38 | Deletion | HSD17B6 |
nsv826382 | Chr.12:56757680 - 56814823 on Build GRCh38 | Gain | HSD17B6 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |