Transcript #00001598 (NM_004565.2, PEX14 gene)

Transcript name peroxisomal biogenesis factor 14
Gene name PEX14 (peroxisomal biogenesis factor 14)
Chromosome 1
Transcript - NCBI ID NM_004565.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_004556.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

16 entries on 1 page. Showing entries 1 - 16.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.62A>T r.(?) p.(Asn21Ile)
+/. 2i_3i c.(84+1_85-1)_(169+1_170-1)del r.85_169del p.Ile29fs
-?/. - c.151G>A r.(?) p.(Ala51Thr)
-/. - c.156C>T r.(?) p.(Phe52=)
-?/. 3i c.170-27840C>G r.(?) p.(=)
?/. - c.208T>G r.(?) p.(Ser70Ala)
?/. - c.331G>A r.(?) p.(Ala111Thr)
-/. - c.384+14A>T r.(=) p.(=)
-?/. - c.400C>G r.(?) p.(Leu134Val)
-?/. - c.451G>A r.(?) p.(Gly151Ser)
+/. - c.553C>T r.553c>u p.Gln185*
?/. - c.575C>G r.(?) p.(Ala192Gly)
+/. 7i c.585+1G>T r.spl p.?
?/. - c.768G>A r.(=) p.(=)
?/. - c.768G>A r.(=) p.(=)
-?/. - c.795A>G r.(?) p.(Ser265=)
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