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 16 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
HELQ | NM_001297755.1 | 14 | 2832 | NP_001284684.1 |
NM_001297756.1 | 15 | 3046 | NP_001284685.1 | |
NM_001297757.1 | 14 | 2935 | NP_001284686.1 | |
NM_133636.3 | 15 | 3033 | NP_598375.2 | |
XM_005262711.1 | 15 | 2894 | XP_005262768.1 | |
XM_005262713.2 | 15 | 3123 | XP_005262770.1 | |
XM_017007679.1 | 14 | 2693 | XP_016863168.1 | |
XM_017007680.1 | 14 | 2922 | XP_016863169.1 | |
XM_017007682.1 | 15 | 3114 | XP_016863171.1 | |
XM_017007683.1 | 13 | 2233 | XP_016863172.1 | |
AF436845.1 | 15 | 2994 | AAL85274.1 | |
AK308395.1 | 14 | 2773 | ||
AK312725.1 | 15 | 3010 | ||
AL512702.1 | 13 | 1697 | CAH56359.1 | |
CK905810.1 | 4 | 575 |
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 | PLAC8 HELQ FAM175A MRPS18C COQ2 HPSE |
esv3601196 | Chr.4:83419958 - 83470239 on Build GRCh38 | Loss | HELQ FAM175A MRPS18C |
nsv829992 | Chr.4:83244588 - 83458578 on Build GRCh38 | Loss | HELQ MRPS18C COQ2 HPSE |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |