Transcript #00025559 (NM_001166686.1, PFKM gene)

Transcript name transcript variant 1
Gene name PFKM (phosphofructokinase, muscle)
Chromosome 12
Transcript - NCBI ID NM_001166686.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001160158.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

13 entries on 1 page. Showing entries 1 - 13.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.-39176_-39175del r.(?) p.(=)
-/. - c.5A>T r.(?) p.(His2Leu)
+?/. - c.205+2T>C r.spl p.?
-/. - c.206-4265C>A r.(=) p.(=)
?/. - c.209G>A r.(?) p.(Trp70Ter)
+/. - c.450+1G>A r.spl? p.?
-/. - c.512G>A r.(?) p.(Arg171Gln)
-?/. - c.519C>T r.(=) p.(=)
?/. - c.674G>C r.(?) p.(Ser225Thr)
?/. - c.1317C>T r.(?) p.(Asp439=)
?/. - c.2300G>A r.(?) p.(Arg767His)
?/. - c.2417G>A r.(?) p.(Arg806Gln)
-/. - c.2547T>G r.(?) p.(Ala849=)
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