Name: [Hs02661698_cn] [DHTKD1]
Creator: Thermo Fisher Scientific
Keywords: [DHTKD1] Assay, [dehydrogenase E1 and transketolase domain containing 1] Assay

Genomic Map

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Assay Details

Target Gene Details

Entrez Gene ID:	55526
Gene Name:	dehydrogenase E1 and transketolase domain containing 1
Gene Aliases:	AAKAD, AMOXAD, CMT2Q, E1a, OADC-E1, OADH-E1
Location:	Chr.10:12068954-12123221 on Build GRCh38
Assay Gene Location:	Overlaps Intron 7 - Exon 8

Gene Symbol	Transcript Accession	Protein ID
DHTKD1	NM_018706.7	NP_061176.4
	AK309810.1
	BC002477.2	AAH02477.1
	BC007955.2	AAH07955.1
	CR749726.1	CAH18489.1

Target Copy Number Variation Details

DGV Version:

Release date: 2025-12-01, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv1035894	Chr.10:12039222 - 12127501 on Build GRCh38	Gain	DHTKD1 UPF2
nsv6141674	Chr.10:12058346 - 12124178 on Build GRCh38	Duplication	DHTKD1
nsv831785	Chr.10:11928851 - 12124076 on Build GRCh38	Gain	DHTKD1 UPF2
dgv673n100	Chr.10:12049505 - 12137652 on Build GRCh38	Gain	SEC61A2 DHTKD1 MIR548AK
nsv4173580	Chr.10:12058308 - 12124170 on Build GRCh38	Duplication	DHTKD1
dgv37n21	Chr.10:12024028 - 12123248 on Build GRCh38	Gain	DHTKD1 UPF2
dgv674n100	Chr.10:12077012 - 12134998 on Build GRCh38	Gain	SEC61A2 DHTKD1 MIR548AK
esv3622354	Chr.10:12050805 - 12129371 on Build GRCh38	Gain	DHTKD1
nsv6452283	Chr.10:12095578 - 12121488 on Build GRCh38	Deletion	DHTKD1
nsv4188028	Chr.10:12094656 - 12215246 on Build GRCh38	Duplication	NUDT5 SEC61A2 CDC123 DHTKD1 MIR548AK
nsv1035709	Chr.10:12054410 - 12183299 on Build GRCh38	Gain	NUDT5 SEC61A2 DHTKD1 MIR548AK
esv3693047	Chr.10:12058736 - 12117648 on Build GRCh38	Gain	DHTKD1
nsv6442697	Chr.10:12058331 - 12124163 on Build GRCh38	Duplication	DHTKD1
nsv1046396	Chr.10:12059681 - 12109949 on Build GRCh38	Gain	DHTKD1
esv3891755	Chr.10:12080356 - 12104859 on Build GRCh38	Loss	DHTKD1