Assay Details
Target Gene Details
Entrez Gene ID: | 2967 |
Gene Name: | general transcription factor IIH subunit 3 |
Gene Aliases: |
BTF2, P34, TFB4, TFIIH |
Location: |
Chr.12:123633739-123662604 on Build GRCh38 |
Assay Gene Location: | Within Exon 13 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
GTF2H3 | NM_001271866.1 | 11 | 1273 | NP_001258795.1 |
NM_001271867.1 | 12 | 1322 | NP_001258796.1 | |
NM_001271868.1 | 12 | 1238 | NP_001258797.1 | |
NM_001516.4 | 13 | 1402 | NP_001507.2 | |
XM_017019228.1 | 13 | 1320 | XP_016874717.1 | |
AK298128.1 | 12 | 1232 | ||
BC031030.1 | 10 | 1063 | AAH31030.1 | |
BC039726.2 | 12 | 1268 | AAH39726.1 | |
BC047868.2 | 12 | 1268 | AAH47868.2 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
dgv2926n54 | Chr.12:123635436 - 123711309 on Build GRCh38 | Gain | TCTN2 GTF2H3 |
esv2759918 | Chr.12:123625575 - 123711309 on Build GRCh38 | Gain | TCTN2 EIF2B1 GTF2H3 |
dgv1566n100 | Chr.12:123610211 - 123711309 on Build GRCh38 | Gain | DDX55 TCTN2 EIF2B1 GTF2H3 |
nsv442292 | Chr.12:123630500 - 123711307 on Build GRCh38 | Gain | TCTN2 EIF2B1 GTF2H3 |
dgv1567n100 | Chr.12:123634608 - 123694870 on Build GRCh38 | Gain | TCTN2 GTF2H3 |
esv35148 | Chr.12:123634573 - 123711573 on Build GRCh38 | Gain | TCTN2 GTF2H3 |
dgv309e214 | Chr.12:123628443 - 123712471 on Build GRCh38 | Gain | ATP6V0A2 TCTN2 EIF2B1 GTF2H3 |
dgv1568n100 | Chr.12:123637829 - 123678203 on Build GRCh38 | Loss | TCTN2 GTF2H3 |
nsv1042181 | Chr.12:123552853 - 123668403 on Build GRCh38 | Gain | LOC101927415 DDX55 EIF2B1 TMED2 GTF2H3 |
nsv1052065 | Chr.12:123642456 - 123673392 on Build GRCh38 | Gain+Loss | TCTN2 GTF2H3 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |