Transcript #00015997 (NM_002857.3, PEX19 gene)

Transcript name transcript variant 1
Gene name PEX19 (peroxisomal biogenesis factor 19)
Chromosome 1
Transcript - NCBI ID NM_002857.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_002848.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

27 entries on 1 page. Showing entries 1 - 27.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.-10668A>C r.(?) p.(=)
-?/. - c.-9701A>T r.(?) p.(=)
?/. - c.-9679G>A r.(?) p.(=)
?/. - c.-9424G>T r.(?) p.(=)
-?/. - c.-9366T>G r.(?) p.(=)
-?/. - c.-8255G>A r.(?) p.(=)
-?/. - c.-7416A>C r.(?) p.(=)
?/. - c.-7070G>A r.(?) p.(=)
-?/. - c.-6872C>T r.(?) p.(=)
-?/. - c.-6758C>T r.(?) p.(=)
?/. - c.-6705G>T r.(?) p.(=)
-?/. - c.-6704C>T r.(?) p.(=)
-?/. - c.-5550C>T r.(?) p.(=)
-?/. - c.-5500C>T r.(?) p.(=)
-?/. - c.-5353C>A r.(?) p.(=)
-?/. - c.181-5C>T r.spl? p.?
?/. - c.254C>T r.(?) p.(Ala85Val)
?/. - c.254C>T r.(?) p.(Ala85Val)
?/. - c.254C>T r.(?) p.(Ala85Val)
-?/. - c.261C>T r.(?) p.(Phe87=)
+/. 3 c.320del r.(?) p.(Lys107Serfs*13)
+/. 3 c.320del r.(?) p.(Lys107Serfs*13)
+/. - c.432+2T>C r.spl? p.?
+/. 6 c.763dup r.(?) p.(Met255Asnfs*25)
+/. - c.763dup r.(?) p.(Met255Asnfs*25)
+/. - c.769C>T r.(?) p.(Gln257*)
+?/. - c.771+1G>A r.spl? p.?
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