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 |
---|---|---|---|
nsv10216 | Chr.2:208372424 - 208382669 on Build GRCh38 | Loss | PTH2R |
dgv4160n100 | Chr.2:208363948 - 208382659 on Build GRCh38 | Loss | PTH2R |
nsv437315 | Chr.2:208339990 - 208384888 on Build GRCh38 | Loss | PTH2R PIKFYVE |
nsv1004537 | Chr.2:208372850 - 208382996 on Build GRCh38 | Loss | PTH2R |
esv2657801 | Chr.2:208368937 - 208382498 on Build GRCh38 | Deletion | PTH2R |
dgv88e203 | Chr.2:208372862 - 208384078 on Build GRCh38 | Loss | PTH2R |
esv3594114 | Chr.2:208368715 - 208383261 on Build GRCh38 | Loss | PTH2R |
nsv584297 | Chr.2:208155457 - 208452035 on Build GRCh38 | Gain | LOC100507443 C2orf80 CRYGA IDH1 PTH2R IDH1-AS1 PIKFYVE |
esv28670 | Chr.2:208368961 - 208382607 on Build GRCh38 | Loss | PTH2R |
esv2421431 | Chr.2:208370648 - 208382496 on Build GRCh38 | Deletion | PTH2R |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |