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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: LCA5 ENSG00000135338

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Description

Leber congenital amaurosis 5 [Source:HGNC Symbol;Acc:31923]

Gene Synonyms

C6orf152

Location

Chromosome 6: 80,194,708-80,247,175 reverse strand.

GRCh37:CM000668.1

About this gene

This gene has 3 transcripts (splice variants), 1 paralogue 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
ENST00000392959.1	LCA5-002	4719	697aa	ENSP00000376686.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS4990	A7X9N5 Q86VQ0	NM_181714.3	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000369846.4	LCA5-001	4542	697aa	ENSP00000358861.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS4990	A7X9N5 Q86VQ0	NM_001122769.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000467898.3	LCA5-003	2894	430aa	ENSP00000474463.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		A7X9N5 S4R3K6	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,

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Summary

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