Assay Details
Target Gene Details
Entrez Gene ID: | 8226 |
Gene Name: | pseudouridine 5'-phosphatase |
Gene Aliases: |
DXF68S1E, FAM16AX, GS1, HDHD1, HDHD1A |
Location: |
Chr.X:6768840-7148190 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PUDP | NM_001135565.1 | NP_001129037.1 | ||
NM_001178135.1 | NP_001171606.1 | |||
NM_001178136.1 | NP_001171607.1 | |||
NM_012080.4 | NP_036212.3 | |||
AK223405.1 | BAD97125.1 | |||
AK300740.1 | ||||
AK300985.1 | ||||
AK307088.1 | ||||
AK313155.1 | ||||
AU099056.1 | ||||
AU141098.2 | ||||
BC012494.1 | AAH12494.1 | |||
DA653367.1 | ||||
DC388394.1 | ||||
DR156836.1 | ||||
M86934.1 | AAA58622.1 |
Target Gene Details
Entrez Gene ID: | 412 |
Gene Name: | steroid sulfatase (microsomal), isozyme S |
Gene Aliases: |
ARSC, ARSC1, ASC, ES, SSDD, XLI |
Location: |
Chr.X:7147252-7354643 on Build GRCh38 |
Assay Gene Location: | Overlaps Exon 1 - Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
STS | NM_001320750.1 | NP_001307679.1 | ||
AM072429.1 | ||||
AM282551.1 | ||||
DA327298.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3576734 | Chr.X:6537111 - 7202526 on Build GRCh38 | Gain | PUDP STS MIR4767 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |