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 Exon 7 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
QDPR | NM_000320.2 | 7 | 1263 | NP_000311.2 |
NM_001306140.1 | 6 | 1170 | NP_001293069.1 | |
AK124382.1 | 6 | 1022 | ||
AK223437.1 | 7 | 1119 | BAD97157.1 | |
AK289773.1 | 7 | 1119 | ||
AK296622.1 | ||||
AW104747.1 | 1 | 398 | ||
BC000576.2 | 7 | 1107 | AAH00576.1 | |
M16447.1 | 7 | 1163 | AAA52305.1 | |
X04882.1 | 7 | 1107 | 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 | LOC101929123 CLRN2 LAP3 QDPR |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |