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See other DHTKD1 CNV Assays ›
Gene Symbol
DHTKD1
Assay Reference Genome
Location

Chr.10:12091700 on build GRCh38
Cytoband
10p14
Assay ID Hs02858331_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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  • Genomic Map
  • Assay Details
  • More Information

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:

AMOXAD, CMT2Q

Location:

Chr.10:12068917-12123228 on Build GRCh38

Assay Gene Location:

Overlaps Exon 6 - Intron 6
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
CR749726.1 CAH18489.1

Target Copy Number Variation Details

DGV Version:

Release date: 2016-05-15, GRCh GRCh38
Target
Variation
Location CNV
Subtype
Genes
dgv674n100 Chr.10:12077012 - 12134998 on Build GRCh38 Gain MIR548AK DHTKD1 SEC61A2
dgv37n21 Chr.10:12024028 - 12123248 on Build GRCh38 Gain DHTKD1 UPF2
esv3622354 Chr.10:12050805 - 12129371 on Build GRCh38 Gain DHTKD1
nsv1035894 Chr.10:12039222 - 12127501 on Build GRCh38 Gain DHTKD1 UPF2
dgv67n27 Chr.10:12058736 - 12123248 on Build GRCh38 Gain DHTKD1
nsv1035709 Chr.10:12054410 - 12183299 on Build GRCh38 Gain NUDT5 MIR548AK DHTKD1 SEC61A2
dgv673n100 Chr.10:12049505 - 12137652 on Build GRCh38 Gain MIR548AK DHTKD1 SEC61A2
nsv831785 Chr.10:11928851 - 12124076 on Build GRCh38 Gain DHTKD1 UPF2
esv3891755 Chr.10:12080356 - 12104859 on Build GRCh38 Loss DHTKD1
nsv1046396 Chr.10:12059681 - 12109949 on Build GRCh38 Gain DHTKD1

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More Information


Set Membership:

Intragenic Non-exonic DGV Variation

Panther Classification:

Molecular Function -

dehydrogenase

Gene Ontology Categories:

Function(s) Process(es)

hematopoietic progenitor cell differentiation
generation of precursor metabolites and energy
glycolytic process
tricarboxylic acid cycle
glyoxylate metabolic process
oxoglutarate dehydrogenase (succinyl-transferring) activity
thiamine pyrophosphate binding

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