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 Intron 6 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
RECQL | NM_002907.3 | NP_002898.2 | ||
NM_032941.2 | NP_116559.1 | |||
XM_005253461.3 | XP_005253518.1 | |||
XM_005253462.4 | XP_005253519.1 | |||
XM_005253463.3 | XP_005253520.1 | |||
XM_005253464.3 | XP_005253521.1 | |||
AK291627.1 | ||||
AY157499.1 | AAO61939.1 | |||
BC001052.2 | AAH01052.1 | |||
BT007119.1 | AAP35783.1 | |||
D37984.1 | BAA07200.1 | |||
L36140.1 | AAA60261.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3303869 | Chr.12:21482028 - 21482029 on Build GRCh38 | Mobile Element Insertion | RECQL |
nsv557741 | Chr.12:21425625 - 22016920 on Build GRCh38 | Gain | GOLT1B RECQL GYS2 LDHB KCNJ8 SPX ABCC9 PYROXD1 |
nsv1054220 | Chr.12:21459224 - 21539169 on Build GRCh38 | Gain | GOLT1B RECQL GYS2 SPX PYROXD1 |
esv3341944 | Chr.12:21482025 - 21482049 on Build GRCh38 | Insertion | RECQL |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |