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