Transcript #00010158 (NM_014301.3, ISCU gene)

Transcript name transcript variant 1
Gene name ISCU (iron-sulfur cluster scaffold homolog (E. coli))
Chromosome 12
Transcript - NCBI ID NM_014301.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_055116.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

31 entries on 1 page. Showing entries 1 - 31.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.-1747C>T r.(?) p.(=)
-/. - c.-1708G>C r.(?) p.(=)
-/. - c.-153T>G r.(?) p.(=)
-/. - c.-152T>G r.(?) p.(=)
-/. - c.-58+17dup r.(=) p.(=)
+/? 3 c.74G>A r.(?) p.(Gly25Glu)
?/. - c.139G>A r.(?) p.(Val47Ile)
+/. 4 c.212G>T r.(?) p.(Gly71Val)
-?/. - c.234A>G r.(?) p.(Ser78=)
+/? 5i c.343+382G>C r.343_344ins343+390_343+489 p.Met115Lysfs*16
+/? 5i c.343+382G>C r.343_344ins343+390_343+489 p.Met115Lysfs*16
+/? 5i c.343+382G>C r.343_344ins343+390_343+489 p.Met115Lysfs*16
+/? 5i c.343+382G>C r.(?) p.(Met115Lysfs*16)
+/? 5i c.343+382G>C r.spl p.fs*
+/? 5i c.343+382G>C r.343_344ins343+390_343+489 p.Met115Lysfs*16
+/? 5i c.343+382G>C r.343_344ins343+390_343+489 p.Met115Lysfs*16
+/? 5i c.343+382G>C r.343_344ins343+390_343+489 p.Met115Lysfs*16
+/? 5i c.343+382G>C r.343_344ins343+390_343+489 p.Met115Lysfs*16
+/? 5i c.343+382G>C r.343_344ins343+390_343+489 p.Met115Lysfs*16
+/? 5i c.343+382G>C r.343_344ins343+390_343+489 p.Met115Lysfs*16
+/? 5i c.343+382G>C r.343_344ins343+390_343+489 p.Met115Lysfs*16
+/? 5i c.343+382G>C r.343_344ins343+390_343+489 p.Met115Lysfs*16
+/? 5i c.343+382G>C r.343_344ins343+390_343+489 p.Met115Lysfs*16
+/? 5i c.343+382G>C r.[343_344ins343+390_343+489,343_344ins343+390_343+475] p.Met115Lysfs*16
+/? 5i c.343+382G>C r.[343_344ins343+390_343+489,343_344ins343+390_343+475] p.Met115Lysfs*16
+/? 5i c.343+382G>C r.[343_344ins343+390_343+489,343_344ins343+390_343+475] p.Met115Lysfs*16
+/? 5i c.343+382G>C r.[343_344ins343+390_343+489,343_344ins343+390_343+475] p.Met115Lysfs*16
+/? 5i c.343+382G>C r.[343_344ins343+390_343+489,343_344ins343+390_343+475] p.Met115Lysfs*16
+/? 5i c.343+382G>C r.[343_344ins343+390_343+489,343_344ins343+390_343+475] p.Met115Lysfs*16
+/? 5i c.343+382G>C r.[343_344ins343+390_343+489,343_344ins343+390_343+475] p.Met115Lysfs*16
-?/. - c.373C>T r.(?) p.(Leu125=)
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