The DHTKD1 gene homepage

General information
Gene symbol DHTKD1
Gene name dehydrogenase E1 and transketolase domain containing 1
Chromosome 10
Chromosomal band p14
Imprinted Unknown
Genomic reference NC_000010.10
Transcript reference NM_018706.5
Associated with diseases AMOXAD, CMT-2Q, ID
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 72
Unique public DNA variants reported 50
Individuals with public variants 11
Hidden variants 13
Date created May 03, 2013
Date last updated September 15, 2020
Version DHTKD1:200915

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 23537
Entrez Gene 55526
PubMed articles DHTKD1
OMIM - Gene 614984
OMIM - Diseases AMOXAD (aciduria, 2-aminoadipic 2-oxoadipic (AMOXAD))
CMT-2Q (Charcot-Marie-Tooth disease, axonal, type 2Q (CMT-2Q))

Active transcripts




NCBI ID     

NCBI Protein ID     

00006400 10 dehydrogenase E1 and transketolase domain containing 1 NM_018706.5 NP_061176.3 72

Copyright & disclaimer
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