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 3 |
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 | |||
AF016509.1 | AAB67236.1 | |||
AF223225.1 | AAF81017.1 | |||
AK313423.1 | ||||
BC020710.1 | AAH20710.1 | |||
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 | LOC101927583 KIF5A PAN2 NDUFA4L2 STAT2 B4GALNT1 SNORD59A GLI1 SLC39A5 PTGES3 GPR182 SNORD59B RDH16 MARS MBD6 CNPY2 ARHGEF25 ZBTB39 APOF OS9 MIR1228 STAT6 MIP DTX3 NXPH4 INHBC TAC3 PIP4K2C DDIT3 SHMT2 CS TIMELESS SDR9C7 ARHGAP9 NACA MIR616 SLC26A10 SPRYD4 IL23A LRP1-AS HBCBP ATP5B LRP1 RNF41 NABP2 STAC3 GLS2 DCTN2 PRIM1 NEMP1 BAZ2A NAB2 SNORA105C COQ10A R3HDM2 RBMS2 MYO1A INHBE HSD17B6 MIR6758 ANKRD52 |
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 |