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 2 |
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 | |||
AF223225.1 | AAF81017.1 | |||
AK313423.1 | ||||
BC020710.1 | AAH20710.1 | |||
DA086202.1 | ||||
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 | NAB2 COQ10A LRP1-AS STAT2 PRIM1 ZBTB39 RBMS2 SNORD59B SPRYD4 CNPY2 TAC3 SNORA105C RDH16 GLS2 TIMELESS NEMP1 NACA NABP2 CS SNORD59A IL23A R3HDM2 STAT6 GLI1 NXPH4 MBD6 MIP MIR6758 SHMT2 ARHGAP9 NDUFA4L2 KIF5A MARS SLC39A5 B4GALNT1 PTGES3 RNF41 MIR1228 HSD17B6 ATP5B APOF HBCBP DCTN2 LOC101927583 PIP4K2C SDR9C7 DDIT3 STAC3 INHBE INHBC MIR616 LRP1 MYO1A BAZ2A GPR182 ARHGEF25 ANKRD52 DTX3 PAN2 SLC26A10 OS9 |
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 |