Assay Details
Target Gene Details
Entrez Gene ID: | 6596 |
Gene Name: | helicase like transcription factor |
Gene Aliases: |
HIP116, HIP116A, HLTF1, RNF80, SMARCA3, SNF2L3, ZBU1 |
Location: |
Chr.3:149030064-149086554 on Build GRCh38 |
Assay Gene Location: | Within Exon 25 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
HLTF | NM_001318934.1 | 25 | 4555 | NP_001305863.1 |
NM_001318935.1 | 26 | 3718 | NP_001305864.1 | |
NM_003071.3 | 25 | 4558 | NP_003062.2 | |
NM_139048.2 | 26 | 3721 | NP_620636.1 | |
XM_011513091.1 | 25 | 4570 | XP_011511393.1 | |
XM_011513092.1 | 26 | 3733 | XP_011511394.1 | |
XM_011513093.1 | 25 | 4567 | XP_011511395.1 | |
XM_017007078.1 | 26 | 3709 | XP_016862567.1 | |
XM_017007079.1 | 26 | 3718 | XP_016862568.1 | |
BC044659.1 | 25 | 4523 | AAH44659.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv829752 | Chr.3:148923749 - 149084119 on Build GRCh38 | Loss | GYG1 HLTF |
nsv829753 | Chr.3:148954528 - 149120758 on Build GRCh38 | Gain | GYG1 HLTF-AS1 HLTF |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |