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