Assay Details
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 Intron 8 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
BLM | NM_000057.3 | NP_000048.1 | ||
NM_001287246.1 | NP_001274175.1 | |||
NM_001287247.1 | NP_001274176.1 | |||
NM_001287248.1 | NP_001274177.1 | |||
XM_011521881.2 | XP_011520183.1 | |||
XM_011521882.2 | XP_011520184.1 | |||
AK295194.1 | ||||
AK314262.1 | ||||
BC093622.1 | AAH93622.1 | |||
BC101567.1 | AAI01568.1 | |||
BC115030.1 | AAI15031.1 | |||
BC115032.1 | AAI15033.1 | |||
BC143280.1 | ||||
U39817.1 | 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 | CRTC3 IQGAP1 CRTC3-AS1 BLM LINC01585 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |