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: | Overlaps Exon 3 - 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 | GPR182 GLI1 SNORD59B COQ10A NXPH4 LOC101927583 MIR1228 DCTN2 STAC3 HSD17B6 MYO1A PIP4K2C PTGES3 RBMS2 MIR6758 CS APOF TAC3 DDIT3 SLC39A5 INHBC SNORA105C MBD6 SDR9C7 ZBTB39 BAZ2A LRP1 KIF5A MARS SHMT2 ATP5B LRP1-AS STAT6 ARHGEF25 RNF41 NACA SLC26A10 MIP NEMP1 DTX3 PAN2 SNORD59A GLS2 R3HDM2 RDH16 HBCBP OS9 ANKRD52 NDUFA4L2 B4GALNT1 STAT2 MIR616 CNPY2 INHBE IL23A SPRYD4 TIMELESS NABP2 PRIM1 ARHGAP9 NAB2 |
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 Non-exonic DGV Variation |