Human (GRCh38.p14) ▼ 
Summary
SequenceProtein InformationGenetic VariationVariant tableVariant imageHaplotypesPopulation comparisonComparison imageExternal ReferencesSupporting evidenceID History.
transmembrane protein with EGF like and two follistatin like domains 1 [Source:HGNC Symbol;Acc:HGNC:11866]
C9ORF2, CT120.1, H7365
Chromosome 9: 100,473,149-100,577,636 forward strand.
This transcript has 10 exons, is annotated with 28 domains and features, is associated with 44190 variant alleles and maps to 553 oligo probes.
This transcript is a product of gene ENSG00000241697.5 Show transcript tableHide transcript table
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Exons: 10, Coding exons: 10, Transcript length: 2,575 bps, Translation length: 380 residues
This MANE Select transcript contains ENSP00000364013 and matches to NM_003692.5 and NP_003683.2
This transcript corresponds to the following Uniprot identifiers: Q8IYR6
This transcript is a member of the Human CCDS set: CCDS6750
TSL:1
ENST00000374879.5
Protein coding
Transcript where the Ensembl genebuild transcript and the Havana manual annotation have the same sequence, for every base pair. See article.
This transcript is a member of the Gencode basic gene set.
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Ensembl release 111 - January 2024 ©
EMBL-EBI
EMBL-EBI
http://useast.ensembl.org
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