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Summary
- Splice variants
- Transcript comparison
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Gene: CEP290 OTTHUMG00000169871

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Description

centrosomal protein 290kDa

Synonyms

CT87, rd16, MKS4, NPHP6, FLJ13615, KIAA0373, JBTS5, 3H11Ag, SLSN6, BBS14, LCA10, POC3

Location

Chromosome 12: 88,049,016-88,142,216 reverse strand.

VEGA68:CM000674.2

About this gene

This gene has 6 transcripts (splice variants).

Transcripts

Show transcript tableHide transcript table

Name	Transcript ID	bp	Protein	Translation ID	Biotype	CCDS	UniProt	Flags
CEP290-001	OTTHUMT00000406344.1	7948	2479aa	OTTHUMP00000242341	<p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding	CCDS55858	O15078
CEP290-005	OTTHUMT00000406343.2	5968	1539aa	OTTHUMP00000242340	<p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding	-	O15078
CEP290-003	OTTHUMT00000406345.2	2741	857aa	OTTHUMP00000272791	<p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding	-	S4R322	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete
CEP290-007	OTTHUMT00000406349.3	1285	107aa	OTTHUMP00000242345	<p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding	-	F8W0V9	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete
CEP290-006	OTTHUMT00000406348.2	697	164aa	OTTHUMP00000242344	<p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding	-	F8W097	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete
CEP290-004	OTTHUMT00000406346.2	2122	613aa	OTTHUMP00000242342	Transcript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins. Nonsense mediated decay	-	F8VS29	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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