Assay Details
Target Gene Details
Entrez Gene ID: | 5860 |
Gene Name: | quinoid dihydropteridine reductase |
Gene Aliases: |
DHPR, PKU2, SDR33C1 |
Location: |
Chr.4:17486393-17512234 on Build GRCh38 |
Assay Gene Location: | Within Intron 4 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
QDPR | NM_000320.2 | NP_000311.2 | ||
NM_001306140.1 | NP_001293069.1 | |||
AK124382.1 | ||||
AK223437.1 | BAD97157.1 | |||
AK289773.1 | ||||
AK296622.1 | ||||
BC000576.2 | AAH00576.1 | |||
BM762805.1 | ||||
M16447.1 | AAA52305.1 | |||
X04882.1 | CAA28571.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1003127 | Chr.4:17454748 - 17540540 on Build GRCh38 | Gain | CLRN2 QDPR |
nsv593781 | Chr.4:17030351 - 17591490 on Build GRCh38 | Gain | CLRN2 QDPR LAP3 LOC101929123 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |