Gene: POLH ENSG00000170734

Description

polymerase (DNA directed), eta [Source:HGNC Symbol;Acc:9181]

Gene Synonyms

RAD30, RAD30A, XP-V, XPV

Location

GRCh37:CM000668.1

About this gene

This gene has 4 transcripts (splice variants), 3 paralogues and is associated with 4 phenotypes.

Transcripts

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000372236.4	POLH-001	3540	713aa	ENSP00000361310.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS4902	B3KN75 B4DG64 Q5JTF2 Q9Y253	NM_006502.2	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,
ENST00000372226.1	POLH-003	3322	414aa	ENSP00000361300.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q5JTF2 Q9Y253	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000535400.1	POLH-201	2548	651aa	ENSP00000442102.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B4DG64 Q5JTF2	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000443535.1	POLH-002	331	71aa	ENSP00000405320.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q5JTF2	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,

EMBL-EBI User Survey 2024