Genomic Map
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Target Gene Details
Entrez Gene ID: | 641 |
Gene Name: | Bloom syndrome RecQ like helicase |
Gene Aliases: |
BS, RECQ2, RECQL2, RECQL3 |
Location: |
Chr.15:90717327-90815462 on Build GRCh38 |
Assay Gene Location: | Within Exon 8 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| BLM | NM_000057.3 | 7 | 1924 | NP_000048.1 |
| NM_001287246.1 | 8 | 2034 | NP_001274175.1 | |
| NM_001287247.1 | 7 | 1924 | NP_001274176.1 | |
| NM_001287248.1 | 7 | 2090 | NP_001274177.1 | |
| XM_011521881.2 | 4 | 959 | XP_011520183.1 | |
| XM_011521882.2 | 7 | 1911 | XP_011520184.1 | |
| AK295194.1 | 5 | 1059 | ||
| AK314262.1 | 7 | 1853 | ||
| BC093622.1 | 7 | 1847 | AAH93622.1 | |
| BC101567.1 | 7 | 1847 | AAI01568.1 | |
| BC115030.1 | 7 | 1872 | AAI15031.1 | |
| BC115032.1 | 7 | 1872 | AAI15033.1 | |
| BC143280.1 | 7 | 2012 | ||
| U39817.1 | 7 | 1880 | AAA87850.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| nsv1045042 | Chr.15:90453811 - 90841192 on Build GRCh38 | Gain |
 IQGAP1
BLM
LINC01585
CRTC3
CRTC3-AS1
|
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Set Membership: |
Intragenic
Exonic
DGV Variation
|
Panther Classification:
Gene Ontology Categories:
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