Transcript: ENST00000513398.1 ACTN3-001

Description

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

Location

Chromosome 11: 66,314,312-66,330,800 forward strand.

About this transcript

This transcript has 21 exons, is associated with 7947 variant alleles and maps to 549 oligo probes.

Gene

This transcript is a product of gene ENSG00000248746.1 Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	UniProt Match	RefSeq	Flags
ENST00000511191.1	ACTN3-005	704	72aa	ENSP00000426236.1	Nonsense mediated decay	D6RH00	-	-
ENST00000502692.1	ACTN3-003	3084	944aa	ENSP00000422007.1	Pseudogene owing to a SNP/indel but in other individuals/haplotypes/strains the gene is translated.Polymorphic pseudogene	-	NM_001258371.1	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000513398.1	ACTN3-001	2939	901aa	ENSP00000426797.1	Pseudogene owing to a SNP/indel but in other individuals/haplotypes/strains the gene is translated.Polymorphic pseudogene	-	NM_001104.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,

Summary

Statistics

Exons: 21, Coding exons: 21, Transcript length: 2,939 bps, Translation length: 901 residues

Version

ENST00000513398.1

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-MKK, CSHL-HAPMAP:HapMap-JPT, CSHL-HAPMAP:HapMap-CEU, ESP6500:African_American, CSHL-HAPMAP:HAPMAP-CHB, CSHL-HAPMAP:HAPMAP-TSI, CSHL-HAPMAP:HAPMAP-GIH, CSHL-HAPMAP:HAPMAP-CHD, ESP6500:European_American, CSHL-HAPMAP:HapMap-HCB, CSHL-HAPMAP:HapMap-YRI, CSHL-HAPMAP:HAPMAP-ASW, CSHL-HAPMAP:HAPMAP-MEX, CSHL-HAPMAP:HAPMAP-LWK.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:	OTTHUMT00000362453 (version 2)

GENCODE basic gene

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

Favourite species

All species

Recent locations

Transcript: ENST00000513398.1 ACTN3-001

Summary