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 15 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
P3H1 | NM_001146289.1 | 14 | 2149 | NP_001139761.1 |
NM_001243246.1 | 14 | 2149 | 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 | |||
AK025841.1 | BAB15256.1 | |||
AK027648.1 | 14 | 2077 | BAB55264.1 | |
AK027680.1 | BAB55291.1 | |||
AK027697.1 | BAB55305.1 | |||
AK075418.1 | BAC11608.1 | |||
AK297980.1 | ||||
BC015309.2 | AAH15309.2 | |||
BC108311.1 | 14 | 2087 | AAI08312.1 | |
BE675748.1 | ||||
BT007039.1 | AAP35688.1 | |||
CR749690.1 | 2 | 1397 | 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 | P3H1 CLDN19 |
esv3577249 | Chr.1:42576524 - 42885152 on Build GRCh38 | Gain | CCDC30 P3H1 LOC339539 PPIH C1orf50 YBX1 SVBP LOC100129924 LOC105378683 CLDN19 ERMAP ZNF691 |
nsv829682 | Chr.1:42589429 - 42773568 on Build GRCh38 | Loss | CCDC30 P3H1 PPIH C1orf50 YBX1 CLDN19 |
More Information
Additional Information:
For this assay, SNP(s) [rs67014447] 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 Exonic DGV Variation |