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Human (GRCh37.p13)
Description

actinin, alpha 3 (gene/pseudogene) [Source:HGNC Symbol;Acc:165]

Location
About this transcript

This transcript has 21 exons, is associated with 5242 variant alleles and maps to 586 oligo probes.

Gene
NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ACTN3-005ENST00000511191.170472aaENSP00000426236.1
 
Nonsense mediated decay
-D6RH00 --
ACTN3-003ENST00000502692.13084944aaENSP00000422007.1
 
Polymorphic pseudogene
--NM_001258371
NP_001245300
GENCODE basic
ACTN3-001ENST00000513398.12939901aaENSP00000426797.1
 
Polymorphic pseudogene
--NM_001104
NP_001095
GENCODE basic
Statistics

Exons: 21, Coding exons: 21, Transcript length: 3,084 bps, Translation length: 944 residues

Version

ENST00000502692.1

Type

Polymorphic pseudogene

Annotation Method

Manual annotation (determined on a case-by-case basis) from the Havana project.

Stop codons

This transcript has a variant, rs1815739, that causes a stop codon to be lost in at least 10% of HapMap or 1000 Genome population(s) CSHL-HAPMAP:HAPMAP-CHD, CSHL-HAPMAP:HAPMAP-LWK, ESP6500:European_American, ESP6500:African_American, CSHL-HAPMAP:HapMap-JPT, CSHL-HAPMAP:HAPMAP-GIH, CSHL-HAPMAP:HAPMAP-ASW, CSHL-HAPMAP:HapMap-HCB, CSHL-HAPMAP:HapMap-YRI, CSHL-HAPMAP:HAPMAP-MKK, CSHL-HAPMAP:HAPMAP-CHB, CSHL-HAPMAP:HapMap-CEU, CSHL-HAPMAP:HAPMAP-MEX, CSHL-HAPMAP:HAPMAP-TSI.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:
OTTHUMT00000362465 (version 1)
GENCODE basic gene

This transcript is a member of the Gencode basic gene set.

Transcript-based displays