Transcript #00002721

Transcript name transcript variant 1
Gene name APRT (adenine phosphoribosyltransferase)
Chromosome 16
Transcript - NCBI ID NM_000485.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000476.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

217 entries on 3 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+?/. - c.-2622G>A r.(?) p.(=)
+/. - c.(-1_*1)? r.? p.?
+/. - c.1A>G r.(?) p.0?
+/. - c.1A>G r.(?) p.0?
+/. - c.1A>G r.(?) p.0?
+/. - c.1A>G r.(?) p.0?
+/. - c.1A>G r.(?) p.0?
+/. - c.1A>G r.(?) p.0?
+/. - c.1A>G r.(?) p.0?
+/. - c.3G>A r.(?) p.0?
+/. - c.3G>A r.(?) p.0?
?/. - c.80+3G>A r.spl? p.?
+/. - c.82G>C r.(?) p.(Asp28His)
+/. - c.84C>A r.(?) p.(Asp28Glu)
+/. - c.84C>A r.(?) p.(Asp28Glu)
+/. - c.98T>C r.(?) p.(Leu33Pro)
+/. - c.119G>C r.(?) p.(Arg40Pro)
+/. - c.160C>G r.(?) p.(His54Asp)
+/. - c.184_187+22del r.spl p.?
+/. 2i_3 c.184_187+22del r.spl? p.?
-/. 2i c.188-349C>G r.= p.=
+/. 2i_3 c.188-145_296delinsTTCCCTGA r.spl? p.?
+/. - c.188-145_296delinsTTCCCTGA r.spl? p.?
+/. 2i_3 c.188-145_296delinsTTCCCTGA r.spl? p.?
+/. 2i c.188-3C>G r.0 p.0
+/. - c.188G>A r.(?) p.(Gly63Asp)
+/. - c.188G>A r.(?) p.(Gly63Asp)
+/. - c.188G>A r.(?) p.(Gly63Asp)
+/. - c.188G>A r.(?) p.(Gly63Asp)
+/. - c.194A>T r.(?) p.(Asp65Val)
+/. - c.194A>T r.(?) p.(Asp65Val)
+/. - c.194A>T r.(?) p.(Asp65Val)
+/. - c.194A>T r.(?) p.(Asp65Val)
+/. - c.194A>T r.(?) p.(Asp65Val)
+/. - c.194A>T r.(?) p.(Asp65Val)
+/. - c.194A>T r.(?) p.(Asp65Val)
+/. - c.194A>T r.(?) p.(Asp65Val)
+/. - c.194A>T r.(?) p.(Asp65Val)
+/. - c.194A>T r.(?) p.(Asp65Val)
+/. - c.194A>T r.(?) p.(Asp65Val)
+/. - c.194A>T r.(?) p.(Asp65Val)
+/. - c.194A>T r.(?) p.(Asp65Val)
+/. - c.194A>T r.(?) p.(Asp65Val)
+/. - c.194A>T r.(?) p.(Asp65Val)
+/. - c.194A>T r.(?) p.(Asp65Val)
+/. - c.194A>T r.(?) p.(Asp65Val)
+/. - c.194A>T r.(?) p.(Asp65Val)
+/. - c.194A>T r.(?) p.(Asp65Val)
+/. - c.194A>T r.(?) p.(Asp65Val)
+/. - c.194A>T r.(?) p.(Asp65Val)
+/. - c.194A>T r.(?) p.(Asp65Val)
+/. - c.194A>T r.(?) p.(Asp65Val)
+/. - c.194A>T r.(?) p.(Asp65Val)
+/. - c.194A>T r.(?) p.(Asp65Val)
+/. - c.194A>T r.(?) p.(Asp65Val)
+/. - c.194A>T r.(?) p.(Asp65Val)
+/. - c.194A>T r.(?) p.(Asp65Val)
+/. - c.194A>T r.(?) p.(Asp65Val)
+/. - c.194A>T r.(?) p.(Asp65Val)
+/. - c.194A>T r.(?) p.(Asp65Val)
+/. - c.194A>T r.(?) p.(Asp65Val)
+/. - c.194A>T r.(?) p.(Asp65Val)
+/. - c.199C>T r.(?) p.(Arg67*)
+/. - c.200G>A r.(?) p.(Arg67Gln)
+/. - c.200G>A r.(?) p.(Arg67Gln)
+/. - c.250G>A r.(?) p.(Val84Met)
+/. - c.258_261dup r.(?) p.(Lys88Profs*23)
+/. - c.258_261dup r.(?) p.(Lys88Profs*23)
+/. - c.258_261dup r.(?) p.(Lys88Profs*23)
+/. - c.258_261dup r.(?) p.(Lys88Profs*23)
+/. - c.258_261dup r.(?) p.(Lys88Profs*23)
+/. - c.258_261dup r.(?) p.(Lys88Profs*23)
+/. - c.259C>T r.(?) p.(Arg87*)
+/. - c.280_286del r.(?) p.(Gly94Leufs*41)
+/. - c.286_287del r.(?) p.(Thr96Serfs*13)
+/. - c.286_287del r.(?) p.(Thr96Serfs*13)
+/. - c.289_290del r.(?) p.(Leu97Valfs*12)
+/. - c.289_290del r.(?) p.(Leu97Valfs*12)
+/. 3 c.289_290del r.(?) p.(Leu97Valfs*12)
+/. - c.289_290del r.(?) p.(Leu97Valfs*12)
+/. - c.289_290del r.(?) p.(Leu97Valfs*12)
+/. - c.289_290del r.(?) p.(Leu97Valfs*12)
+/. - c.294G>A r.(?) p.(Trp98*)
+/. - c.294G>A r.294g>a p.Trp98*
+/. - c.294G>A r.(?) p.(Trp98*)
+/. - c.294G>A r.(?) p.(Trp98*)
+/. - c.294G>A r.(?) p.(Trp98*)
+/. - c.294G>A r.(?) p.(Trp98*)
+/. - c.294G>A r.(?) p.(Trp98*)
+/. - c.294G>A r.(?) p.(Trp98*)
+/. - c.294G>A r.(?) p.(Trp98*)
+/. - c.294G>A r.(?) p.(Trp98*)
+/. - c.294G>A r.(?) p.(Trp98*)
-/. - c.297C>T r.297c>u p.=
-/. - c.297C>T r.(=) p.(=)
-/. - c.297C>T r.(=) p.(=)
+/. - c.311A>G r.(?) p.(Glu104Gly)
+/. - c.311A>G r.(?) p.(Glu104Gly)
+/. - c.329T>C r.(?) p.(Leu110Pro)
+/. - c.329T>C r.(?) p.(Leu110Pro)
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