Assay Details
Target Gene Details
| Entrez Gene ID: | 5965 | 
| Gene Name: | RecQ like helicase | 
| Gene Aliases: | RECQL1, RecQ1 | 
| Location: | Chr.12:21468910-21501669 on Build GRCh38 | 
| Assay Gene Location: | Within Exon 4 | 
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID | 
|---|---|---|---|---|
| RECQL | NM_002907.3 | 4 | 888 | NP_002898.2 | 
| NM_032941.2 | 5 | 691 | NP_116559.1 | |
| XM_005253461.3 | 5 | 762 | XP_005253518.1 | |
| XM_005253462.4 | 5 | 577 | XP_005253519.1 | |
| XM_005253463.3 | 4 | 611 | XP_005253520.1 | |
| XM_005253464.3 | 4 | 561 | XP_005253521.1 | |
| AK291627.1 | 4 | 812 | ||
| AV718094.1 | 5 | 623 | ||
| AY157499.1 | AAO61939.1 | |||
| BC001052.2 | 5 | 573 | AAH01052.1 | |
| BT007119.1 | 3 | 343 | AAP35783.1 | |
| D37984.1 | 2 | 343 | BAA07200.1 | |
| L36140.1 | 4 | 870 | AAA60261.1 | 
Target Copy Number Variation Details
| DGV Version: | Release date: 2016-05-15, GRCh GRCh38 | 
| Target Variation | Location | CNV Subtype | Genes | 
|---|---|---|---|
| nsv557741 | Chr.12:21425625 - 22016920 on Build GRCh38 | Gain |  GOLT1B  RECQL  SPX  PYROXD1  KCNJ8  ABCC9  LDHB  GYS2 | 
| nsv1054220 | Chr.12:21459224 - 21539169 on Build GRCh38 | Gain |  GOLT1B  RECQL  SPX  PYROXD1  GYS2 | 
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| Set Membership: |  Intragenic  Exonic  DGV Variation | 
Panther Classification:
Gene Ontology Categories:
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