Transcript #00024016 (NM_001142415.1, AIMP1 gene)

Transcript name transcript variant 2
Gene name AIMP1 (aminoacyl tRNA synthetase complex-interacting multifunctional protein 1)
Chromosome 4
Transcript - NCBI ID NM_001142415.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001135887.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

38 entries on 1 page. Showing entries 1 - 38.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.-269070G>A r.(?) p.(=)
-?/. - c.-268969dup r.(?) p.(=)
-?/. - c.-220197T>A r.(?) p.(=)
-?/. - c.-199407T>A r.(?) p.(=)
?/. - c.-144518G>C r.(?) p.(=)
+?/. - c.-121965dup r.(?) p.(=)
-?/. - c.-121882G>A r.(?) p.(=)
-?/. - c.-83902A>T r.(?) p.(=)
+/. - c.-82720C>T r.(?) p.(=)
+/. - c.-82720C>T r.(?) p.(=)
+/. - c.-82720C>T r.(?) p.(=)
-?/. - c.-82693T>C r.(?) p.(=)
-?/. - c.-79257G>A r.(?) p.(=)
-?/. - c.-79197C>T r.(?) p.(=)
?/. - c.-73152T>A r.(?) p.(=)
-?/. - c.-73144C>A r.(?) p.(=)
?/. - c.-70940A>G r.(?) p.(=)
?/. - c.-70907T>C r.(?) p.(=)
-?/. - c.-68425G>A r.(?) p.(=)
+/. - c.-68396_-68395insTTCA r.(?) p.(=)
+?/. - c.-68396_-68393del r.(?) p.(=)
?/. - c.-66709C>T r.(?) p.(=)
+/. - c.-53559G>A r.(?) p.(=)
+/. - c.-53559G>A r.(?) p.(=)
-/. - c.-25-6C>A r.(=) p.(=)
-?/. - c.-15C>T r.(?) p.(=)
?/. - c.125T>C r.(?) p.(Leu42Ser)
-?/. - c.146G>A r.(?) p.(Arg49Gln)
+/. - c.334C>T r.(?) p.(Gln112Ter)
?/. - c.338dup r.(?) p.(Gly115Argfs*14)
+/. - c.349del r.(?) p.(Thr117GlnfsTer25)
-?/. - c.359A>G r.(?) p.(Glu120Gly)
+?/. - c.527T>G r.(?) p.(Val176Gly)
+?/. 5 c.527T>G r.(?) p.(Val176Gly)
?/. - c.592C>T r.(?) p.(Pro198Ser)
-?/. - c.604-10T>C r.(=) p.(=)
?/. - c.845A>G r.(?) p.(Asp282Gly)
+?/. 7 c.895G>A r.(?) p.(Gly299Arg)
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