Assay Details
Target Gene Details
Entrez Gene ID: | 5745 |
Gene Name: | parathyroid hormone 1 receptor |
Gene Aliases: |
PFE, PTHR, PTHR1 |
Location: |
Chr.3:46877690-46903799 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PTH1R | NM_000316.2 | NP_000307.1 | ||
XM_011533967.2 | XP_011532269.1 | |||
XM_011533968.2 | XP_011532270.1 | |||
XM_017006934.1 | XP_016862423.1 | |||
BC112221.1 | AAI12222.1 | |||
BC112247.1 | AAI12248.1 | |||
U17418.1 | AAA56774.1 | |||
X68596.1 | CAA48589.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv508915 | Chr.3:46814349 - 46913473 on Build GRCh38 | Insertion | PTH1R PRSS42 MYL3 |
nsv428417 | Chr.3:46638962 - 47778557 on Build GRCh38 | Loss | SCAP PTH1R KIF9-AS1 PRSS50 SETD2 TMIE PRSS43 PRSS45 PRSS42 ALS2CL NRADDP CCDC12 SMARCC1 SNORD13P3 MYL3 CSPG5 KIF9 ELP6 PTPN23 PRSS46 KLHL18 NBEAL2 |
dgv8308n54 | Chr.3:46811189 - 46894037 on Build GRCh38 | Loss | PTH1R PRSS43 PRSS42 MYL3 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |