Transcript #00016012 (NM_000289.5, PFKM gene)

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

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.-12037A>T r.(?) p.(=)
-/. - c.-913C>A r.(?) p.(=)
?/. - c.-5G>A r.(?) p.(=)
+/. - c.237+1G>A r.spl? p.?
+?/. - c.298C>T r.(?) p.(Arg100*)
-/. - c.299G>A r.(?) p.(Arg100Gln)
-?/. - c.306C>T r.(?) p.(Ala102=)
?/. - c.461G>C r.(?) p.(Ser154Thr)
+?/. - c.935T>C r.(?) p.(Leu312Pro)
?/. - c.1104C>T r.(?) p.(Asp368=)
?/. - c.2087G>A r.(?) p.(Arg696His)
?/. - c.2204G>A r.(?) p.(Arg735Gln)
-/. - c.2334T>G r.(?) p.(Ala778=)
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