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 7 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
P4HTM | NM_177938.2 | 7 | 1633 | NP_808807.2 |
NM_177939.2 | NP_808808.1 | |||
AI079878.1 | ||||
AK000269.1 | 6 | 1584 | BAA91045.1 | |
AL713728.1 | 3 | 4473 | CAD28518.2 | |
AY198406.1 | AAO43431.1 | |||
BC000580.1 | AAH00580.1 | |||
BC011710.2 | 7 | 1289 | 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 |