Assay Details
Target Gene Details
Entrez Gene ID: | 84263 |
Gene Name: | hydroxysteroid dehydrogenase like 2 |
Gene Aliases: |
C9orf99, SDR13C1 |
Location: |
Chr.9:112379292-112472410 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
HSDL2 | NM_001195822.1 | 1 | 231 | NP_001182751.1 |
NM_032303.4 | 1 | 231 | NP_115679.2 | |
NR_036651.1 | 1 | 231 | ||
XM_011519091.2 | 1 | 231 | XP_011517393.1 | |
XM_017015203.1 | 1 | 848 | XP_016870692.1 | |
XM_017015204.1 | 1 | 848 | XP_016870693.1 | |
XM_017015205.1 | 1 | 848 | XP_016870694.1 | |
AK098721.1 | 1 | 203 | ||
AK225946.1 | ||||
AK289929.1 | 1 | 59 | ||
AK292486.1 | ||||
AK301469.1 | ||||
AK303645.1 | ||||
AK313605.1 | ||||
AY093428.1 | 1 | 70 | AAM14670.1 | |
BC004331.1 | 1 | 60 | AAH04331.1 | |
BC095451.1 | AAH95451.1 | |||
DB052480.1 | 1 | 231 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv6668 | Chr.9:112371097 - 112405645 on Build GRCh38 | Insertion | HSDL2 |
nsv511430 | Chr.9:112333463 - 112558334 on Build GRCh38 | Loss | KIAA1958 PTBP3 C9orf147 HSDL2 |
nsv466487 | Chr.9:112305317 - 112382301 on Build GRCh38 | Loss | PTBP3 HSDL2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |