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