Transcript #00011647

Transcript name transcript variant 4
Gene name PFKM (phosphofructokinase, muscle)
Chromosome 12
Transcript - NCBI ID NM_000289.5
Transcript - Ensembl ID -
Protein - NCBI ID NP_000280.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

66 entries on 1 page. Showing entries 1 - 66.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-1049T>C r.(=) p.(=)
./. - c.-913C>A r.(=) p.(=)
./. - c.-867C>T r.(=) p.(=)
./. - c.-803_-802del r.(=) p.(=)
./. - c.-677A>C r.(=) p.(=)
./. - c.-8-86G>T r.(=) p.(=)
./. - c.85+2447T>C r.(=) p.(=)
./. - c.85+2472G>C r.(=) p.(=)
./. - c.86-54G>T r.(=) p.(=)
./. - c.159+11T>C r.(=) p.(=)
./. - c.159+89C>A r.(=) p.(=)
./. - c.160-214T>A r.(=) p.(=)
./. - c.160-44A>G r.(=) p.(=)
./. - c.237+73G>T r.(=) p.(=)
./. - c.237+685A>G r.(=) p.(=)
./. - c.238-647C>T r.(=) p.(=)
./. - c.246G>A r.(=) p.(=)
./. - c.299G>A r.(?) p.(Arg100Gln)
./. - c.306C>T r.(=) p.(=)
./. - c.427+52G>A r.(=) p.(=)
./. - c.427+129T>G r.(=) p.(=)
./. - c.428-128C>G r.(=) p.(=)
./. - c.428-125T>C r.(=) p.(=)
./. - c.428-68T>C r.(=) p.(=)
./. - c.428-39G>A r.(=) p.(=)
./. - c.495T>A r.(=) p.(=)
./. - c.516C>T r.(=) p.(=)
./. - c.594-41A>G r.(=) p.(=)
./. - c.594-38G>A r.(=) p.(=)
./. - c.747+24T>G r.(=) p.(=)
./. - c.748-29G>A r.(=) p.(=)
./. - c.844-44G>T r.(=) p.(=)
./. - c.844-38G>A r.(=) p.(=)
./. - c.862G>A r.(?) p.(Gly288Arg)
./. - c.872C>G r.(?) p.(Thr291Ser)
./. - c.937-77G>C r.(=) p.(=)
./. - c.1063-74G>A r.(=) p.(=)
./. - c.1063-5C>T r.spl? p.?
./. - c.1127+217G>A r.(=) p.(=)
./. - c.1191+125G>T r.(=) p.(=)
./. - c.1191+126T>C r.(=) p.(=)
./. - c.1341+24A>G r.(=) p.(=)
./. - c.1341+43A>G r.(=) p.(=)
./. - c.1341+83C>T r.(=) p.(=)
./. - c.1341+160_1341+161insG r.(=) p.(=)
./. - c.1342-90G>A r.(=) p.(=)
./. - c.1342-14G>T r.(=) p.(=)
./. - c.1412+114C>T r.(=) p.(=)
./. - c.1412+125A>T r.(=) p.(=)
./. - c.1413-58C>A r.(=) p.(=)
./. - c.1413-32C>T r.(=) p.(=)
./. - c.1500+29C>T r.(=) p.(=)
./. - c.1500+32C>T r.(=) p.(=)
./. - c.1654-159A>G r.(=) p.(=)
./. - c.1819-39A>G r.(=) p.(=)
./. - c.1880+27A>G r.(=) p.(=)
./. - c.1880+32G>C r.(=) p.(=)
./. - c.1992+37A>G r.(=) p.(=)
./. - c.2087G>A r.(?) p.(Arg696His)
./. - c.2093-33G>T r.(=) p.(=)
./. - c.2093-14A>G r.(=) p.(=)
./. - c.2198+86del r.(=) p.(=)
./. - c.2201A>G r.(?) p.(His734Arg)
./. - c.2312C>T r.(?) p.(Thr771Ile)
./. - c.2334T>G r.(=) p.(=)
./. - c.*72_*73del r.(=) p.(=)
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