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 | CNPY2 RNF41 PTGES3 BAZ2A PIP4K2C ARHGEF25 KIF5A SNORD59B STAC3 COQ10A GLS2 PAN2 SHMT2 NAB2 MBD6 DTX3 PRIM1 MARS NXPH4 GPR182 RDH16 LRP1-AS R3HDM2 CS MIP NABP2 ATP5B RBMS2 SLC26A10 OS9 MIR6758 DDIT3 SLC39A5 NACA ARHGAP9 DCTN2 TAC3 LRP1 LOC101927583 ANKRD52 SDR9C7 TIMELESS APOF HBCBP MIR1228 MYO1A GLI1 ZBTB39 B4GALNT1 NDUFA4L2 MIR616 SPRYD4 HSD17B6 STAT6 INHBC SNORD59A INHBE IL23A STAT2 SNORA105C NEMP1 |
esv3629600 | Chr.12:56762971 - 56780702 on Build GRCh38 | Loss | HSD17B6 |
esv3580281 | Chr.12:56766287 - 56769532 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 |