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Summary
- Splice variants
- Transcript comparison
- Gene alleles
Sequence
- Secondary Structure
Comparative Genomics
- Paralogues
- Genomic alignments
- Gene tree
- Gene gain/loss tree
- Orthologues
Ontologies
- GO: Cellular component
- GO: Molecular function
- GO: Biological process
Phenotypes
Genetic Variation
Gene expression
Pathway
Molecular interactions
Regulation
External references
Supporting evidence
ID History
- Gene history

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Gene: CCDC50 ENSG00000152492

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Description

coiled-coil domain containing 50 [Source:HGNC Symbol;Acc:18111]

Gene Synonyms

C3orf6, DFNA44, YMER, Ymer

Location

Chromosome 3: 191,046,866-191,116,459 forward strand.

GRCh37:CM000665.1

About this gene

This gene has 3 transcripts (splice variants) and is associated with 2 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000392456.3	CCDC50-002	2454	482aa	ENSP00000376250.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS33912	Q8IVM0	NM_178335.2	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,
ENST00000392455.3	CCDC50-001	8429	306aa	ENSP00000376249.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS33913	Q8IVM0	NM_174908.3	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000460064.1	CCDC50-003	420	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

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Summary

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