Assay Details
Target Gene Details
Entrez Gene ID: | 404672 |
Gene Name: | general transcription factor IIH subunit 5 |
Gene Aliases: |
C6orf175, TFB5, TFIIH, TGF2H5, TTD, TTD-A, TTD3, TTDA, bA120J8.2 |
Location: |
Chr.6:158168316-158199344 on Build GRCh38 |
Assay Gene Location: | Within Intron 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
GTF2H5 | NM_207118.2 | NP_997001.1 | ||
XM_017010862.1 | XP_016866351.1 | |||
AJ634743.1 | CAG25512.1 | |||
AK055106.1 | ||||
BC056906.1 | ||||
BC060317.1 | AAH60317.1 | |||
CN403888.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3571490 | Chr.6:158174204 - 158221090 on Build GRCh38 | Loss | GTF2H5 |
nsv830849 | Chr.6:158118191 - 158279850 on Build GRCh38 | Loss | TULP4 SERAC1 GTF2H5 |
esv3890972 | Chr.6:158082895 - 158303958 on Build GRCh38 | Gain | TULP4 SYNJ2 SERAC1 GTF2H5 |
More Information
Additional Information:
For this assay, SNP(s) [rs139567040] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |