Description
excision repair cross-complementing rodent repair deficiency, complementation group 6 [Source:HGNC Symbol;Acc:3438]
Gene Synonyms
ARMD5, CKN2, COFS, COFS1, CSB, RAD26, UVSS1
Location
Chromosome 10: 50,663,414-50,747,584 reverse strand.
GRCh37:CM000672.1
About this gene
This gene has 6 transcripts (splice variants), 2 paralogues and is associated with 14 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000355832.5 | ERCC6-001 | 8008 | 1493aa | ENSP00000348089.5 | Protein coding | CCDS7229 | D6R9X7 F5H493 Q03468 | NM_000124.3 | GENCODE basic, |
ENST00000542458.1 | ERCC6-201 | 2932 | 863aa | ENSP00000445134.1 | Protein coding | F5H493 | - | GENCODE basic, | |
ENST00000462247.1 | ERCC6-005 | 660 | 179aa | ENSP00000422827.1 | Protein coding | D6R9X7 | - | CDS 3' incomplete, | |
ENST00000465653.1 | ERCC6-002 | 733 | No protein | - | Processed transcript | - | - | - | |
ENST00000475116.1 | ERCC6-003 | 424 | No protein | - | Processed transcript | - | - | - | |
ENST00000479652.1 | ERCC6-004 | 418 | No protein | - | Processed transcript | - | - | - |