Transcript #00009179

Transcript name dehydrogenase E1 and transketolase domain containing 1
Gene name DHTKD1 (dehydrogenase E1 and transketolase domain containing 1)
Chromosome 10
Transcript - NCBI ID NM_018706.6
Transcript - Ensembl ID -
Protein - NCBI ID NP_061176.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

71 entries on 1 page. Showing entries 1 - 71.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-116G>A r.(=) p.(=)
./. - c.40G>T r.(?) p.(Gly14Cys)
./. - c.58T>C r.(?) p.(Phe20Leu)
./. - c.155-123_155-116del r.(=) p.(=)
./. - c.155-108T>A r.(=) p.(=)
./. - c.155-84T>C r.(=) p.(=)
./. - c.209C>G r.(?) p.(Ala70Gly)
./. - c.234C>T r.(=) p.(=)
./. - c.310+40C>T r.(=) p.(=)
./. - c.310+41A>C r.(=) p.(=)
./. - c.311-49A>T r.(=) p.(=)
./. - c.609C>T r.(=) p.(=)
./. - c.718-24T>A r.(=) p.(=)
./. - c.814T>G r.(?) p.(Tyr272Asp)
./. - c.923G>A r.(?) p.(Arg308His)
./. - c.951C>T r.(=) p.(=)
./. - c.973G>A r.(?) p.(Val325Ile)
./. - c.987+10G>C r.(=) p.(=)
./. - c.1048A>G r.(?) p.(Asn350Asp)
./. - c.1079T>C r.(?) p.(Val360Ala)
./. - c.1284G>A r.(=) p.(=)
./. - c.1358+31C>T r.(=) p.(=)
./. - c.1359-28del r.(=) p.(=)
./. - c.1560C>T r.(=) p.(=)
./. - c.1671+33C>T r.(=) p.(=)
./. - c.1671+35C>G r.(=) p.(=)
./. - c.1671+45C>T r.(=) p.(=)
./. - c.1671+53G>A r.(=) p.(=)
./. - c.1756+16T>C r.(=) p.(=)
./. - c.1756+23_1756+24insTGTTTTTTTTTTT r.(=) p.(=)
./. - c.1756+25_1756+26insTTTTTTTTTTTTGT r.(=) p.(=)
./. - c.1756+40G>T r.(=) p.(=)
./. - c.1756+41A>T r.(=) p.(=)
./. - c.1756+42G>T r.(=) p.(=)
./. - c.1821C>G r.(?) p.(Ile607Met)
./. - c.1896+140G>A r.(=) p.(=)
./. - c.1897-126A>C r.(=) p.(=)
./. - c.1911A>C r.(=) p.(=)
./. - c.1938T>C r.(=) p.(=)
./. - c.2047+44G>A r.(=) p.(=)
./. - c.2048-100G>T r.(=) p.(=)
./. - c.2048-12G>T r.(=) p.(=)
./. - c.2079C>T r.(=) p.(=)
./. - c.2121C>A r.(?) p.(Asp707Glu)
./. - c.2155-28T>C r.(=) p.(=)
./. - c.2184C>T r.(=) p.(=)
./. - c.2319+129T>G r.(=) p.(=)
./. - c.2320-106G>A r.(=) p.(=)
./. - c.2320-25A>G r.(=) p.(=)
./. - c.2320-4G>A r.spl? p.?
./. - c.2340A>G r.(=) p.(=)
./. - c.2402+10G>C r.(=) p.(=)
./. - c.2402+92_2402+113del r.(=) p.(=)
./. - c.2402+93_2402+104del r.(=) p.(=)
./. - c.2402+93_2402+110del r.(=) p.(=)
./. - c.2402+106_2402+107del r.(=) p.(=)
./. - c.2402+107_2402+108insTA r.(=) p.(=)
./. - c.2403-152T>C r.(=) p.(=)
./. - c.2403-146T>C r.(=) p.(=)
./. - c.2403-142T>C r.(=) p.(=)
./. - c.2403-125C>T r.(=) p.(=)
./. - c.2403-116T>C r.(=) p.(=)
./. - c.2403-98A>G r.(=) p.(=)
./. - c.2403-81T>C r.(=) p.(=)
./. - c.2523C>T r.(=) p.(=)
./. - c.2572+55A>G r.(=) p.(=)
./. - c.2573-82C>G r.(=) p.(=)
./. - c.2573-78del r.(=) p.(=)
./. - c.2658+56_2658+57insTTTC r.(=) p.(=)
./. - c.2659-126A>G r.(=) p.(=)
./. - c.*129C>T r.(=) p.(=)
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