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 4 |
| 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_017006932.1 | XP_016862421.1 | |||
| XM_017006933.1 | XP_016862422.1 | |||
| 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 |
|
| nsv428417 | Chr.3:46638962 - 47778557 on Build GRCh38 | Loss |
|
| dgv8308n54 | Chr.3:46811189 - 46894037 on Build GRCh38 | Loss |
|
More Information
Set Membership: |
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Genomic Map