Human (GRCh37.p13)
Description

Bloom syndrome, RecQ helicase-like [Source:HGNC Symbol;Acc:1058]

Gene Synonyms

BS, RECQ2, RECQL2, RECQL3

Location

Chromosome 15: 91,260,558-91,358,859 forward strand.

GRCh37:CM000677.1

About this gene

This gene has 10 transcripts (splice variants), 4 paralogues and is associated with 71 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000355112.3BLM-00145551417aaENSP00000347232.3
 
Protein coding
CCDS10363P54132 NM_001287246.1GENCODE basic
ENST00000560509.1BLM-00239661286aaENSP00000454158.1
 
Protein coding
H0YNU5 NM_001287247.1GENCODE basic
ENST00000559724.1BLM-0034510413aaENSP00000453359.1
 
Nonsense mediated decay
H0YLV8 --
ENST00000560136.1BLM-0042023No protein-
 
Processed transcript
---
ENST00000560821.1BLM-0101024No protein-
 
Processed transcript
---
ENST00000559282.1BLM-006866No protein-
 
Processed transcript
---
ENST00000558599.1BLM-007577No protein-
 
Processed transcript
---
ENST00000559426.1BLM-009533No protein-
 
Processed transcript
---
ENST00000558825.1BLM-0051683No protein-
 
Retained intron
---
ENST00000560559.1BLM-011747No protein-
 
Retained intron
---