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 13 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PTH1R | NM_000316.2 | 10 | 1104 | NP_000307.1 |
NM_001184744.1 | 8 | 967 | NP_001171673.1 | |
XM_005265344.3 | 8 | 2901 | XP_005265401.1 | |
XM_011533967.2 | 10 | 1199 | XP_011532269.1 | |
XM_011533968.2 | 9 | 1046 | XP_011532270.1 | |
XM_017006932.1 | 9 | 1151 | XP_016862421.1 | |
XM_017006933.1 | 9 | 1253 | XP_016862422.1 | |
XM_017006934.1 | 10 | 1169 | XP_016862423.1 | |
AY449732.1 | 8 | 901 | AAR18076.1 | |
BC110388.1 | 8 | 967 | ||
BC112221.1 | 10 | 1104 | AAI12222.1 | |
BC112247.1 | 10 | 1104 | AAI12248.1 | |
L04308.1 | 8 | 929 | AAA36525.1 | |
U17418.1 | 10 | 1119 | AAA56774.1 | |
X68596.1 | 10 | 1075 | 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 |
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nsv460526 | Chr.3:46894037 - 46959860 on Build GRCh38 | Loss |
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nsv428417 | Chr.3:46638962 - 47778557 on Build GRCh38 | Loss |
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![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)
More Information
Set Membership: |
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Panther Classification:
Gene Ontology Categories:
![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)