Assay Details
Target Gene Details
Entrez Gene ID: | 54681 |
Gene Name: | prolyl 4-hydroxylase, transmembrane |
Gene Aliases: |
EGLN4, HIFPH4, P4H-TM, PH-4, PH4, PHD4 |
Location: |
Chr.3:48989908-49007149 on Build GRCh38 |
Assay Gene Location: | Within Exon 9 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
P4HTM | NM_177938.2 | 9 | 2104 | NP_808807.2 |
NM_177939.2 | 9 | 1921 | NP_808808.1 | |
AI079878.1 | 1 | 170 | ||
AK000269.1 | 8 | 2055 | BAA91045.1 | |
AL713728.1 | 4 | 5129 | CAD28518.2 | |
AW072069.1 | 1 | 191 | ||
BC000580.1 | 7 | 1079 | AAH00580.1 | |
BC011710.2 | 9 | 1760 | AAH11710.3 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv954488 | Chr.3:49002068 - 49019667 on Build GRCh38 | Deletion | P4HTM DALRD3 WDR6 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |