Assay Details
Target Gene Details
Entrez Gene ID: | 2965 |
Gene Name: | general transcription factor IIH subunit 1 |
Gene Aliases: |
BTF2, P62, TFB1, TFIIH |
Location: |
Chr.11:18322269-18367043 on Build GRCh38 |
Assay Gene Location: | Overlaps Exon 1 - Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
GTF2H1 | NM_001142307.1 | NP_001135779.1 | ||
NM_005316.3 | NP_005307.1 | |||
XM_006718208.3 | XP_006718271.1 | |||
AK027003.1 | BAB15621.1 | |||
AK127204.1 | ||||
AK299621.1 | ||||
AK299730.1 | ||||
AK312974.1 | ||||
BC000365.2 | AAH00365.1 | |||
BC004452.1 | AAH04452.1 | |||
M95809.1 | AAA58399.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv553633 | Chr.11:18290154 - 19036904 on Build GRCh38 | Gain | SPTY2D1 TMEM86A UEVLD TSG101 PTPN5 LDHA LDHAL6A LDHC SPTY2D1-AS1 HPS5 GTF2H1 IGSF22 MRGPRX1 MIR3159 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |