Bloom syndrome, RecQ helicase-like [Source:HGNC Symbol;Acc:1058]
BS, RECQ2, RECQL2, RECQL3
Chromosome 15: 91,305,594-91,312,411 forward strand.
This transcript has 5 exons, is associated with 3024 variant alleles and maps to 113 oligo probes.
This transcript is a product of gene ENSG00000197299.6 Show transcript tableHide transcript table
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000355112.3 | BLM-001 | 4555 | 1417aa | ENSP00000347232.3 | Protein coding | CCDS10363 | P54132 | NM_001287246.1 | Ensembl Canonical, GENCODE basic, |
ENST00000560509.1 | BLM-002 | 3966 | 1286aa | ENSP00000454158.1 | Protein coding | H0YNU5 | NM_001287247.1 | GENCODE basic, | |
ENST00000559724.1 | BLM-003 | 4510 | 413aa | ENSP00000453359.1 | Nonsense mediated decay | H0YLV8 | - | - | |
ENST00000560136.1 | BLM-004 | 2023 | No protein | - | Processed transcript | - | - | - | |
ENST00000560821.1 | BLM-010 | 1024 | No protein | - | Processed transcript | - | - | - | |
ENST00000559282.1 | BLM-006 | 866 | No protein | - | Processed transcript | - | - | - | |
ENST00000558599.1 | BLM-007 | 577 | No protein | - | Processed transcript | - | - | - | |
ENST00000559426.1 | BLM-009 | 533 | No protein | - | Processed transcript | - | - | - | |
ENST00000558825.1 | BLM-005 | 1683 | No protein | - | Retained intron | - | - | - | |
ENST00000560559.1 | BLM-011 | 747 | No protein | - | Retained intron | - | - | - |