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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: PTCHD1 ENSG00000165186

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Description

patched domain containing 1 [Source:HGNC Symbol;Acc:26392]

Gene Synonyms

FLJ30296

Location

Chromosome X: 23,352,133-23,422,489 forward strand.

GRCh37:CM000685.1

About this gene

This gene has 2 transcripts (splice variants), 2 paralogues and is associated with 4 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000379361.4	PTCHD1-002	13714	888aa	ENSP00000368666.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS35215	Q96NR3	NM_173495.2	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000456522.1	PTCHD1-001	736	103aa	ENSP00000406663.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,

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Summary

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