Transcript #00019496 (NM_004782.3, SNAP29 gene)

Transcript name synaptosomal-associated protein, 29kDa
Gene name SNAP29 (synaptosomal-associated protein, 29kDa)
Chromosome 22
Transcript - NCBI ID NM_004782.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_004773.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

33 entries on 1 page. Showing entries 1 - 33.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-2374112_*588438dup r.? p.?
./. - c.-2324360_*221995del r.0? p.0?
./. - c.-2319836_*221995del r.0? p.0?
./. - c.-2190236_*221995del r.0? p.0?
-/. - c.-433_-422del r.(?) p.(=)
-/. - c.-418_-407dup r.(?) p.(=)
-/. - c.-412_-407del r.(?) p.(=)
?/. - c.-412_-407del r.(?) p.(=)
-/. - c.-412_-407dup r.(?) p.(=)
-/. - c.-412_-407dup r.(?) p.(=)
?/. - c.-412_-407dup r.(?) p.(=)
-/. - c.-19C>T r.(?) p.(=)
-/. - c.-19C>T r.(?) p.(=)
-/. - c.-8C>G r.(?) p.(=)
-/. - c.-5G>A r.(?) p.(=)
-/. - c.18A>G r.(?) p.(Lys6=)
-/. - c.18A>G r.(?) p.(Lys6=)
-?/. - c.91C>T r.(?) p.(Leu31Phe)
-/. - c.130T>C r.(?) p.(Tyr44His)
+/. - c.223del r.(?) p.(Val75Serfs*28)
-?/. - c.234C>G r.(?) p.(Ser78=)
?/. - c.259G>A r.(?) p.(Val87Ile)
-/. - c.265G>A r.(?) p.(Glu89Lys)
?/. - c.271A>G r.(?) p.(Thr91Ala)
?/. - c.362A>G r.(?) p.(Asn121Ser)
-?/. - c.487A>G r.(?) p.(Ser163Gly)
?/. - c.487A>G r.(?) p.(Ser163Gly)
+/. 3 c.487dup r.(?) p.(Ser163LysfsTer6)
-?/. - c.521A>G r.(?) p.(Asp174Gly)
+?/. 4 c.586C>T r.(?) p.(Arg196Ter)
-?/. - c.620-4G>A r.spl? p.?
?/. - c.*2551G>A r.(=) p.(=)
?/. - c.*2551G>A r.(=) p.(=)
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