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: | Overlaps Intron 9 - Exon 10 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PTH1R | NM_000316.2 | NP_000307.1 | ||
NM_001184744.1 | NP_001171673.1 | |||
XM_005265344.3 | XP_005265401.1 | |||
XM_011533967.2 | XP_011532269.1 | |||
XM_011533968.2 | XP_011532270.1 | |||
XM_017006932.1 | XP_016862421.1 | |||
XM_017006933.1 | XP_016862422.1 | |||
XM_017006934.1 | XP_016862423.1 | |||
AY449732.1 | AAR18076.1 | |||
BC110388.1 | ||||
BC112221.1 | AAI12222.1 | |||
BC112247.1 | AAI12248.1 | |||
L04308.1 | AAA36525.1 | |||
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 | PRSS42 MYL3 PTH1R |
nsv460526 | Chr.3:46894037 - 46959860 on Build GRCh38 | Loss | CCDC12 PTH1R |
nsv428417 | Chr.3:46638962 - 47778557 on Build GRCh38 | Loss | PRSS42 ALS2CL PRSS46 NBEAL2 TMIE CCDC12 SMARCC1 MYL3 KLHL18 KIF9 PRSS43 NRADDP SNORD13P3 SETD2 CSPG5 SCAP PTPN23 KIF9-AS1 ELP6 PRSS50 PRSS45 PTH1R |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |