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 Exon 7 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PTH1R | NM_000316.2 | 4 | 334 | NP_000307.1 |
NM_001184744.1 | 2 | 197 | NP_001171673.1 | |
XM_005265344.3 | 2 | 2131 | XP_005265401.1 | |
XM_011533967.2 | 4 | 390 | XP_011532269.1 | |
XM_011533968.2 | 3 | 237 | XP_011532270.1 | |
XM_017006932.1 | 3 | 342 | XP_016862421.1 | |
XM_017006933.1 | 3 | 483 | XP_016862422.1 | |
XM_017006934.1 | 4 | 360 | XP_016862423.1 | |
AY449732.1 | 2 | 131 | AAR18076.1 | |
BC110388.1 | 2 | 197 | ||
BC112221.1 | 4 | 334 | AAI12222.1 | |
BC112247.1 | 4 | 334 | AAI12248.1 | |
L04308.1 | 2 | 159 | AAA36525.1 | |
U17418.1 | 4 | 349 | AAA56774.1 | |
X68596.1 | 4 | 305 | 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 MYL3 PRSS42 |
nsv428417 | Chr.3:46638962 - 47778557 on Build GRCh38 | Loss | TMIE KIF9 CCDC12 ALS2CL MYL3 ELP6 PRSS42 SETD2 PTH1R PRSS43 PRSS46 SCAP KIF9-AS1 KLHL18 SMARCC1 NBEAL2 PTPN23 NRADDP SNORD13P3 CSPG5 PRSS45 PRSS50 |
dgv8308n54 | Chr.3:46811189 - 46894037 on Build GRCh38 | Loss | PTH1R PRSS43 MYL3 PRSS42 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |