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 Exon 5 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
HSD17B6 | NM_003725.3 | 4 | 849 | NP_003716.2 |
XM_005269207.1 | 5 | 998 | XP_005269264.1 | |
XM_005269208.1 | 5 | 1002 | XP_005269265.1 | |
XM_005269209.1 | 5 | 989 | XP_005269266.1 | |
XM_006719672.1 | 5 | 997 | XP_006719735.1 | |
XM_011538925.1 | 5 | 992 | XP_011537227.1 | |
XM_011538926.1 | 5 | 982 | XP_011537228.1 | |
XM_011538927.1 | 5 | 973 | XP_011537229.1 | |
AF016509.1 | 3 | 633 | AAB67236.1 | |
AF223225.1 | 4 | 720 | AAF81017.1 | |
AI760144.1 | ||||
AK313423.1 | 4 | 759 | ||
BC020710.1 | 4 | 743 | AAH20710.1 | |
U89281.1 | 4 | 738 | AAB88252.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3580282 | Chr.12:56784847 - 56787465 on Build GRCh38 | Loss | HSD17B6 |
nsv482992 | Chr.12:56206217 - 57706217 on Build GRCh38 | Gain+Loss | CS DCTN2 PAN2 COQ10A INHBC MIP PIP4K2C GLS2 ZBTB39 MBD6 GLI1 RBMS2 DTX3 MYO1A DDIT3 SNORA105C SPRYD4 CNPY2 TIMELESS MIR1228 APOF RDH16 ANKRD52 MIR616 ARHGAP9 INHBE LRP1 RNF41 NACA NEMP1 LOC101927583 SHMT2 KIF5A SLC26A10 SNORD59B MARS NXPH4 ARHGEF25 IL23A MIR6758 SNORD59A STAT6 NABP2 OS9 GPR182 PRIM1 BAZ2A STAC3 TAC3 SDR9C7 LRP1-AS B4GALNT1 STAT2 R3HDM2 HSD17B6 SLC39A5 ATP5B HBCBP NDUFA4L2 PTGES3 NAB2 |
nsv826382 | Chr.12:56757680 - 56814823 on Build GRCh38 | Gain | HSD17B6 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |