Assay Details
Target Gene Details
Entrez Gene ID: | 113510 |
Gene Name: | helicase, POLQ-like |
Gene Aliases: |
HEL308 |
Location: |
Chr.4:83407343-83455883 on Build GRCh38 |
Assay Gene Location: | Within Exon 12 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
HELQ | NM_001297755.1 | 11 | 2465 | NP_001284684.1 |
NM_001297756.1 | 12 | 2679 | NP_001284685.1 | |
NM_001297757.1 | 11 | 2568 | NP_001284686.1 | |
NM_133636.3 | 12 | 2666 | NP_598375.2 | |
XM_005262711.1 | 12 | 2527 | XP_005262768.1 | |
XM_005262713.2 | 12 | 2756 | XP_005262770.1 | |
XM_006714076.2 | 12 | 2628 | XP_006714139.1 | |
XM_017007679.1 | 11 | 2326 | XP_016863168.1 | |
XM_017007680.1 | 11 | 2555 | XP_016863169.1 | |
XM_017007682.1 | 12 | 2747 | XP_016863171.1 | |
XM_017007683.1 | 10 | 1866 | XP_016863172.1 | |
AF436845.1 | 12 | 2627 | AAL85274.1 | |
AK308395.1 | 11 | 2406 | ||
AK312725.1 | 12 | 2643 | ||
AL512702.1 | 10 | 1330 | CAH56359.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3893971 | Chr.4:83096792 - 83493129 on Build GRCh38 | Gain | COQ2 HELQ MRPS18C HPSE FAM175A PLAC8 |
esv3601196 | Chr.4:83419958 - 83470239 on Build GRCh38 | Loss | HELQ MRPS18C FAM175A |
nsv829992 | Chr.4:83244588 - 83458578 on Build GRCh38 | Loss | COQ2 HELQ MRPS18C HPSE |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |