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: | Overlaps Intron 4 - Exon 5 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
P3H1 | NM_001146289.1 | NP_001139761.1 | ||
NM_001243246.1 | NP_001230175.1 | |||
NM_022356.3 | NP_071751.3 | |||
XM_005271110.2 | XP_005271167.1 | |||
XM_011541948.1 | XP_011540250.1 | |||
XM_017002051.1 | XP_016857540.1 | |||
XM_017002052.1 | XP_016857541.1 | |||
AF097431.1 | AAG31018.1 | |||
AF097432.1 | AAG31019.1 | |||
AK027648.1 | BAB55264.1 | |||
AK027680.1 | BAB55291.1 | |||
AK027697.1 | BAB55305.1 | |||
AK075418.1 | BAC11608.1 | |||
AK297980.1 | ||||
AK300210.1 | ||||
BC108311.1 | AAI08312.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3577249 | Chr.1:42576524 - 42885152 on Build GRCh38 | Gain | SVBP ZNF691 ERMAP LOC105378683 P3H1 LOC100129924 C1orf50 YBX1 CLDN19 PPIH LOC339539 CCDC30 |
nsv829682 | Chr.1:42589429 - 42773568 on Build GRCh38 | Loss | P3H1 C1orf50 YBX1 CLDN19 PPIH CCDC30 |
More Information
Additional Information:
For this assay, SNP(s) [rs74070022] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
Intragenic Non-exonic DGV Variation |