Assay Details
Target Gene Details
Entrez Gene ID: | 55526 |
Gene Name: | dehydrogenase E1 and transketolase domain containing 1 |
Gene Aliases: |
AMOXAD, CMT2Q |
Location: |
Chr.10:12068917-12123228 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
DHTKD1 | NM_018706.6 | NP_061176.3 | ||
AK309810.1 | ||||
BC002477.2 | AAH02477.1 | |||
BC007955.2 | AAH07955.1 | |||
CF593518.1 | ||||
HY039281.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
dgv37n21 | Chr.10:12024028 - 12123248 on Build GRCh38 | Gain | UPF2 DHTKD1 |
esv3622354 | Chr.10:12050805 - 12129371 on Build GRCh38 | Gain | DHTKD1 |
nsv1035894 | Chr.10:12039222 - 12127501 on Build GRCh38 | Gain | UPF2 DHTKD1 |
esv3622357 | Chr.10:12069904 - 12082451 on Build GRCh38 | Gain | DHTKD1 |
dgv67n27 | Chr.10:12058736 - 12123248 on Build GRCh38 | Gain | DHTKD1 |
nsv1035709 | Chr.10:12054410 - 12183299 on Build GRCh38 | Gain | MIR548AK SEC61A2 NUDT5 DHTKD1 |
dgv673n100 | Chr.10:12049505 - 12137652 on Build GRCh38 | Gain | MIR548AK SEC61A2 DHTKD1 |
nsv831785 | Chr.10:11928851 - 12124076 on Build GRCh38 | Gain | UPF2 DHTKD1 |
nsv1046396 | Chr.10:12059681 - 12109949 on Build GRCh38 | Gain | DHTKD1 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |