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