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