Transcript #00015996 (NM_057174.2, PEX16 gene)

Transcript name transcript variant 2
Gene name PEX16 (peroxisomal biogenesis factor 16)
Chromosome 11
Transcript - NCBI ID NM_057174.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_476515.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

39 entries on 1 page. Showing entries 1 - 39.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.-5192G>C r.(?) p.(=)
?/. - c.43G>A r.(?) p.(Val15Met)
-/. - c.303C>T r.(?) p.(Ala101=)
-/. - c.307G>A r.(?) p.(Val103Met)
-/. - c.307G>A r.(?) p.(Val103Met)
-/. - c.307G>A r.(?) p.(Val103Met)
-/. - c.346= r.(=) p.(Ile116=)
-/. - c.346= r.(=) p.(Ile116=)
-?/. - c.359+7dup r.(=) p.(=)
+/. - c.460+1dup r.spl p.?
+/. - c.460+5G>A r.360_460del p.Ala121fs
+/. - c.526C>T r.(?) p.(Arg176Ter)
+/. - c.526C>T r.526c>u p.Arg176*
?/. - c.541+5G>A r.spl? p.?
-/. - c.542-16C>T r.(=) p.(=)
-/. - c.542-16C>T r.(=) p.(=)
+/. - c.753_755del r.(?) p.(Val252del)
-?/. - c.760G>C r.(?) p.(Val254Leu)
?/. - c.812G>A r.(?) p.(Arg271Gln)
?/. - c.830G>A r.(?) p.(Arg277Gln)
+/. - c.865C>A r.(?) p.(Pro289Thr)
-/. - c.873T>C r.(?) p.(Tyr291=)
-/. - c.873T>C r.(?) p.(Tyr291=)
?/. - c.877C>T r.(?) p.(Arg293Cys)
-?/. - c.921C>T r.(?) p.(Ala307=)
+/. - c.952+2T>C r.888_952del p.Glu296fs
+/. - c.952+2T>C r.888_952del p.Glu296fs
+/. - c.952+2T>C r.888_952del p.Glu296fs
+/. - c.952+118_956del r.? p.?
+/. - c.953-104del r.(?) p.(=)
+/. - c.953-104del r.(?) p.(=)
+/. - c.953-96A>G r.(?) p.(=)
-/. - c.953-72C>A r.(=) p.(=)
-/. - c.953-12T>C r.(=) p.(=)
?/. - c.953-7C>G r.(=) p.(=)
-/. - c.1034A>C r.(?) p.(His345Pro)
-?/. - c.1035C>T r.(?) p.(His345=)
-?/. - c.1035C>T r.(?) p.(His345=)
-?/. - c.*10C>A r.(=) p.(=)
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