Assay Details
Target Gene Details
Entrez Gene ID: | 10536 |
Gene Name: | prolyl 3-hydroxylase 3 |
Gene Aliases: |
GRCB, HSU47926, LEPREL2 |
Location: |
Chr.12:6828373-6839854 on Build GRCh38 |
Assay Gene Location: | Within Exon 15 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
P3H3 | NM_014262.4 | 15 | 2237 | NP_055077.2 |
AB209320.1 | 13 | 2004 | BAD92557.1 | |
AJ430349.1 | 16 | 2466 | CAD23037.1 | |
AK025976.1 | 15 | 2204 | ||
AK096771.1 | 1 | 1761 | ||
AK126766.1 | 16 | 2799 | ||
AK297917.1 | 5 | 747 | ||
BC017217.2 | 15 | 1778 | AAH17217.2 | |
BC067251.1 | 15 | 1935 | AAH67251.1 | |
BC080630.1 | 15 | 2010 | AAH80630.1 | |
BQ009002.1 | 1 | 454 | ||
U47926.1 | 14 | 1702 | AAC50464.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv526312 | Chr.12:6839304 - 6839735 on Build GRCh38 | Loss | P3H3 |
nsv832324 | Chr.12:6780297 - 6932306 on Build GRCh38 | Loss | GNB3 DSTNP2 ENO2 CD4 RPL13P5 TPI1 SPSB2 P3H3 LOC105369632 LRRC23 ATN1 CDCA3 GPR162 USP5 |
esv3580405 | Chr.12:6826466 - 6903969 on Build GRCh38 | Gain | P3H3 LOC105369632 GNB3 DSTNP2 CDCA3 GPR162 RPL13P5 TPI1 SPSB2 USP5 |
nsv516726 | Chr.12:6838864 - 6839718 on Build GRCh38 | Loss | P3H3 |
nsv832323 | Chr.12:6662233 - 6856559 on Build GRCh38 | Loss | ING4 GNB3 ZNF384 CD4 LAG3 P3H3 MLF2 PTMS PIANP CDCA3 COPS7A GPR162 USP5 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |