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 13 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
P3H1 | NM_001146289.1 | 12 | 1899 | NP_001139761.1 |
NM_001243246.1 | 12 | 1899 | NP_001230175.1 | |
NM_022356.3 | 12 | 1899 | NP_071751.3 | |
XM_005271110.2 | 11 | 1236 | XP_005271167.1 | |
XM_011541948.1 | 12 | 1291 | XP_011540250.1 | |
XM_017002051.1 | 13 | 1871 | XP_016857540.1 | |
XM_017002052.1 | 13 | 1868 | XP_016857541.1 | |
AF097431.1 | 12 | 2066 | AAG31018.1 | |
AF097432.1 | 12 | 1837 | AAG31019.1 | |
AK025841.1 | 8 | 755 | BAB15256.1 | |
AK027648.1 | 12 | 1827 | BAB55264.1 | |
AK027680.1 | 12 | 1801 | BAB55291.1 | |
AK027697.1 | 12 | 1838 | BAB55305.1 | |
AK075418.1 | 12 | 1816 | BAC11608.1 | |
AK297980.1 | 13 | 1704 | ||
BC015309.2 | 8 | 801 | AAH15309.2 | |
BC108311.1 | 12 | 1837 | AAI08312.1 | |
BT007039.1 | 8 | 748 | AAP35688.1 | |
CR749690.1 | 2 | 436 | CAH18474.2 |
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 | CLDN19 P3H1 |
esv3577249 | Chr.1:42576524 - 42885152 on Build GRCh38 | Gain | LOC339539 YBX1 LOC105378683 ERMAP C1orf50 SVBP LOC100129924 CLDN19 ZNF691 P3H1 CCDC30 PPIH |
nsv829682 | Chr.1:42589429 - 42773568 on Build GRCh38 | Loss | YBX1 C1orf50 CLDN19 P3H1 CCDC30 PPIH |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |