Assay Details
Target Gene Details
Entrez Gene ID: | 5746 |
Gene Name: | parathyroid hormone 2 receptor |
Gene Aliases: |
PTHR2 |
Location: |
Chr.2:208359845-208494506 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PTH2R | NM_001309516.1 | NP_001296445.1 | ||
AK294181.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv437315 | Chr.2:208339990 - 208384888 on Build GRCh38 | Loss | PIKFYVE PTH2R |
nsv584297 | Chr.2:208155457 - 208452035 on Build GRCh38 | Gain | PIKFYVE IDH1-AS1 LOC100507443 PTH2R C2orf80 CRYGA IDH1 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |