Transcript #00006573

Transcript name peroxisomal biogenesis factor 7
Gene name PEX7 (peroxisomal biogenesis factor 7)
Chromosome 6
Transcript - NCBI ID NM_000288.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000279.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

35 entries on 1 page. Showing entries 1 - 35.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-95T>C r.(=) p.(=)
./. - c.-95T>G r.(=) p.(=)
./. - c.-77T>C r.(=) p.(=)
./. - c.-65A>T r.(=) p.(=)
./. - c.-56C>T r.(=) p.(=)
./. - c.-31G>A r.(=) p.(=)
./. - c.24G>C r.(=) p.(=)
./. - c.130+47_130+48insGGGGCC r.(=) p.(=)
./. - c.131-169A>G r.(=) p.(=)
./. - c.189-80C>A r.(=) p.(=)
./. - c.339+84A>G r.(=) p.(=)
./. - c.339+108C>T r.(=) p.(=)
./. - c.339+3519del r.(=) p.(=)
./. - c.339+3519dup r.(=) p.(=)
./. - c.339+3531C>T r.(=) p.(=)
./. - c.339+3691G>A r.(=) p.(=)
./. - c.340-103A>G r.(=) p.(=)
./. - c.340-71G>A r.(=) p.(=)
./. - c.377A>C r.(?) p.(Gln126Pro)
./. - c.526+14T>C r.(=) p.(=)
./. - c.526+75G>A r.(=) p.(=)
./. - c.526+83_526+90del r.(=) p.(=)
./. - c.526+126T>C r.(=) p.(=)
./. - c.527-124G>A r.(=) p.(=)
./. - c.527-97G>T r.(=) p.(=)
./. - c.634-152C>T r.(=) p.(=)
./. - c.634-119T>C r.(=) p.(=)
./. - c.747+19_747+23del r.(=) p.(=)
./. - c.747+829G>A r.(=) p.(=)
./. - c.748-16_748-15insT r.spl? p.?
./. - c.748-4G>T r.spl? p.?
./. - c.748-2A>T r.spl? p.?
./. - c.748-1G>T r.spl? p.?
./. - c.803+45A>G r.(=) p.(=)
./. - c.803+105A>C r.(=) p.(=)
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