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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: PCDH19 ENSG00000165194

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Description

protocadherin 19 [Source:HGNC Symbol;Acc:14270]

Gene Synonyms

EFMR, EIEE9, KIAA1313

Location

Chromosome X: 99,546,642-99,665,271 reverse strand.

GRCh37:CM000685.1

About this gene

This gene has 4 transcripts (splice variants), 26 paralogues and is associated with 5 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000373034.4	PCDH19-002	9756	1148aa	ENSP00000362125.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS55462	Q8TAB3	NM_001184880.1	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,
ENST00000255531.7	PCDH19-001	9613	1101aa	ENSP00000255531.7	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS43976	B3KU71 Q8TAB3	NM_020766.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000420881.2	PCDH19-004	7936	1100aa	ENSP00000400327.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS48141	E9PAM6	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000464981.1	PCDH19-003	329	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-

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Summary

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