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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	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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