Assay Details
Target Gene Details
Entrez Gene ID: | 50814 |
Gene Name: | NAD(P) dependent steroid dehydrogenase-like |
Gene Aliases: |
H105E3, SDR31E1, XAP104 |
Location: |
Chr.X:152830967-152869363 on Build GRCh38 |
Assay Gene Location: | Within Exon 6 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
NSDHL | NM_001129765.1 | 4 | 465 | NP_001123237.1 |
NM_015922.2 | 3 | 398 | NP_057006.1 | |
XM_011531178.2 | 5 | 525 | XP_011529480.1 | |
XM_017029564.1 | 3 | 330 | XP_016885053.1 | |
AK026549.1 | 3 | 288 | ||
BC000245.1 | 3 | 319 | AAH00245.1 | |
BC007816.2 | 3 | 369 | AAH07816.1 | |
U47105.2 | 3 | 398 | AAC50558.2 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv7158 | Chr.X:152841419 - 152868689 on Build GRCh38 | Insertion | NSDHL |
nsv470373 | Chr.X:152796870 - 152935948 on Build GRCh38 | Gain | NSDHL ZNF185 CETN2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |