Gene: POLG ENSG00000140521

Description

polymerase (DNA directed), gamma [Source:HGNC Symbol;Acc:9179]

Gene Synonyms

MDP1, MIRAS, MTDPS4A, MTDPS4B, PEO, POLG1, POLGA, SANDO, SCAE

Location

Chromosome 15: 89,859,534-89,878,092 reverse strand.

GRCh37:CM000677.1

About this gene

This gene has 13 transcripts (splice variants) and is associated with 69 phenotypes.

Transcripts

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Transcript ID	Name	bp	Protein	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000268124.5	POLG-001	4502	1239aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS10350	E5KNU5 P54098 Q2V8X9 Q6LCA9	NM_002693.2	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, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000442287.2	POLG-002	4487	1239aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS10350	E5KNU5 P54098 Q2V8X9 Q6LCA9	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000526314.1	POLG-013	686	228aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding		H0YCV2	-	5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete,
ENST00000530292.1	POLG-009	1315	196aa	Nonsense mediated decay		H0YD36	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000528881.2	POLG-012	524	69aa	Nonsense mediated decay		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000526398.1	POLG-005	512	51aa	Nonsense mediated decay		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000530715.1	POLG-008	372	68aa	Nonsense mediated decay		H0YCD2	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000525806.1	POLG-011	195	No protein	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000526671.1	POLG-010	764	No protein	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000532584.1	POLG-004	708	No protein	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000533857.1	POLG-007	567	No protein	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000526573.1	POLG-006	544	No protein	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000532363.1	POLG-003	431	No protein	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

Summary

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Gene: POLG ENSG00000140521

Summary