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Summary
- Splice variants
- Transcript comparison
- Gene alleles
Sequence
- Secondary Structure
Comparative Genomics
Ontologies
Phenotypes
Genetic Variation
Gene expression
Pathway
Molecular interactions
Regulation
External references
Supporting evidence
ID History
- Gene history

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Gene: PTH1R ENSG00000160801

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Description

parathyroid hormone 1 receptor [Source:HGNC Symbol;Acc:9608]

Gene Synonyms

PFE, PTHR, PTHR1

Location

Chromosome 3: 46,919,236-46,945,287 forward strand.

GRCh37:CM000665.1

About this gene

This gene has 8 transcripts (splice variants), 14 paralogues and is associated with 16 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000449590.1	PTH1R-002	2123	593aa	ENSP00000402723.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS2747	E7EWE7 Q03431 Q71UK6	NM_000316.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000313049.5	PTH1R-001	2123	593aa	ENSP00000321999.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS2747	E7EWE7 Q03431 Q71UK6	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000418619.1	PTH1R-003	2070	593aa	ENSP00000411424.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS2747	E7EWE7 Q03431 Q71UK6	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000430002.2	PTH1R-201	1947	593aa	ENSP00000413774.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS2747	E7EWE7 Q03431 Q71UK6	NM_001184744.1	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000427125.2	PTH1R-004	1914	527aa	ENSP00000400977.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E7EWE7 Q71UK6	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000422115.1	PTH1R-008	690	182aa	ENSP00000396176.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		H7C0Q3	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000428220.1	PTH1R-005	2063	333aa	ENSP00000389811.1	Nonsense mediated decay		F2Z314 Q71UK6	-	-
ENST00000490109.1	PTH1R-006	731	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-

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Summary

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