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 Exon 6 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
BLM | NM_000057.3 | 5 | 1174 | NP_000048.1 |
NM_001287246.1 | 6 | 1284 | NP_001274175.1 | |
NM_001287247.1 | 5 | 1174 | NP_001274176.1 | |
NM_001287248.1 | 5 | 1174 | NP_001274177.1 | |
XM_011521881.2 | 3 | 342 | XP_011520183.1 | |
XM_011521882.2 | 5 | 1161 | XP_011520184.1 | |
AK295194.1 | 3 | 309 | ||
AK314262.1 | 5 | 1103 | ||
BC093622.1 | 5 | 1097 | AAH93622.1 | |
BC101567.1 | 5 | 1097 | AAI01568.1 | |
BC107423.1 | 5 | 1117 | AAI07424.1 | |
BC115030.1 | 5 | 1122 | AAI15031.1 | |
BC115032.1 | 5 | 1122 | AAI15033.1 | |
BC143280.1 | 5 | 1097 | ||
DA122319.1 | 3 | 342 | ||
U39817.1 | 5 | 1130 | 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 |
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More Information
Set Membership: |
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Panther Classification:
Gene Ontology Categories:
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