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 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
HSD17B6 | NM_003725.3 | 2 | 236 | NP_003716.2 |
XM_005269207.1 | 3 | 385 | XP_005269264.1 | |
XM_005269208.1 | 3 | 389 | XP_005269265.1 | |
XM_005269209.1 | XP_005269266.1 | |||
XM_006719672.1 | XP_006719735.1 | |||
XM_011538925.1 | 3 | 379 | XP_011537227.1 | |
XM_011538926.1 | 3 | 369 | XP_011537228.1 | |
XM_011538927.1 | XP_011537229.1 | |||
AF016509.1 | AAB67236.1 | |||
AF223225.1 | 2 | 107 | AAF81017.1 | |
AK313423.1 | 2 | 146 | ||
BC020710.1 | 2 | 130 | AAH20710.1 | |
DA086202.1 | 3 | 369 | ||
U89281.1 | 2 | 125 | 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 | ARHGEF25 STAC3 LOC101927583 KIF5A NACA SNORA105C MBD6 OS9 HBCBP GLS2 SLC39A5 MIR1228 ARHGAP9 RNF41 SNORD59B B4GALNT1 NXPH4 MIP NEMP1 BAZ2A LRP1 MYO1A INHBE SHMT2 ANKRD52 TAC3 LRP1-AS MIR616 GPR182 STAT6 SPRYD4 SDR9C7 PTGES3 ZBTB39 SLC26A10 NAB2 GLI1 MIR6758 DCTN2 R3HDM2 DTX3 NABP2 RDH16 PIP4K2C IL23A INHBC PRIM1 DDIT3 TIMELESS STAT2 CNPY2 MARS CS SNORD59A RBMS2 NDUFA4L2 COQ10A HSD17B6 ATP5B PAN2 APOF |
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 Exonic DGV Variation |