Assay Details
Target Gene Details
Entrez Gene ID: | 64175 |
Gene Name: | prolyl 3-hydroxylase 1 |
Gene Aliases: |
GROS1, LEPRE1, OI8 |
Location: |
Chr.1:42746335-42767084 on Build GRCh38 |
Assay Gene Location: | Within Exon 10 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
P3H1 | NM_001146289.1 | 9 | 1501 | NP_001139761.1 |
NM_001243246.1 | 9 | 1501 | NP_001230175.1 | |
NM_022356.3 | 9 | 1501 | NP_071751.3 | |
XM_005271110.2 | 8 | 838 | XP_005271167.1 | |
XM_011541948.1 | 9 | 893 | XP_011540250.1 | |
XM_017002051.1 | 10 | 1473 | XP_016857540.1 | |
XM_017002052.1 | 10 | 1470 | XP_016857541.1 | |
AF097431.1 | 9 | 1668 | AAG31018.1 | |
AF097432.1 | 9 | 1439 | AAG31019.1 | |
AK025841.1 | 5 | 357 | BAB15256.1 | |
AK027648.1 | 9 | 1429 | BAB55264.1 | |
AK027680.1 | 9 | 1403 | BAB55291.1 | |
AK027697.1 | 9 | 1440 | BAB55305.1 | |
AK075418.1 | 9 | 1418 | BAC11608.1 | |
AK297980.1 | 10 | 1306 | ||
BC015309.2 | 5 | 403 | AAH15309.2 | |
BC108311.1 | 9 | 1439 | AAI08312.1 | |
BT007039.1 | 5 | 350 | AAP35688.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv950700 | Chr.1:42731330 - 42756229 on Build GRCh38 | Deletion | P3H1 CLDN19 |
esv3577249 | Chr.1:42576524 - 42885152 on Build GRCh38 | Gain | SVBP P3H1 LOC100129924 CCDC30 PPIH LOC105378683 ZNF691 CLDN19 C1orf50 LOC339539 ERMAP YBX1 |
nsv829682 | Chr.1:42589429 - 42773568 on Build GRCh38 | Loss | P3H1 CCDC30 PPIH CLDN19 C1orf50 YBX1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |