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
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000268124.5 | POLG-001 | 4502 | 1239aa | ENSP00000268124.5 | 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, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000442287.2 | POLG-002 | 4487 | 1239aa | ENSP00000399851.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS10350 | E5KNU5 P54098 Q2V8X9 Q6LCA9 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000526314.1 | POLG-013 | 686 | 228aa | ENSP00000432389.1 | 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 | ENSP00000432885.1 | 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 | ENSP00000433502.2 | 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 | ENSP00000434937.1 | 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 | ENSP00000431395.1 | 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 | - | - | - |
