Transcript #00019353

Transcript name purinergic receptor P2X, ligand-gated ion channel, 6, transcript variant 1
Gene name P2RX6 (purinergic receptor P2X 6)
Chromosome 22
Transcript - NCBI ID NM_005446.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_005437.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

40 entries on 1 page. Showing entries 1 - 40.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-10A>G r.(=) p.(=)
./. - c.85A>T r.(?) p.(Lys29*)
./. - c.148G>A r.(?) p.(Val50Met)
./. - c.164+13A>C r.(=) p.(=)
./. - c.164+49G>C r.(=) p.(=)
./. - c.164+54G>A r.(=) p.(=)
./. - c.165-121C>A r.(=) p.(=)
./. - c.165-50del r.(=) p.(=)
./. - c.165-34G>A r.(=) p.(=)
./. - c.165-32A>G r.(=) p.(=)
./. - c.165-31C>G r.(=) p.(=)
./. - c.171T>G r.(=) p.(=)
./. - c.177C>G r.(=) p.(=)
./. - c.178G>A r.(?) p.(Ala60Thr)
./. - c.316-63C>T r.(=) p.(=)
./. - c.387+25G>A r.(=) p.(=)
./. - c.387+56G>T r.(=) p.(=)
./. - c.387+113G>A r.(=) p.(=)
./. - c.387+118C>G r.(=) p.(=)
./. - c.388-212C>T r.(=) p.(=)
./. - c.388-206C>A r.(=) p.(=)
./. - c.388-102G>T r.(=) p.(=)
./. - c.463+31C>T r.(=) p.(=)
./. - c.534C>A r.(=) p.(=)
./. - c.557+1G>A r.spl? p.?
./. - c.557+1_557+4del r.spl? p.?
./. - c.557+10C>T r.(=) p.(=)
./. - c.557+34C>T r.(=) p.(=)
./. - c.558-23T>C r.(=) p.(=)
./. - c.725G>A r.(?) p.(Arg242His)
./. - c.728T>C r.(?) p.(Ile243Thr)
./. - c.781-28C>T r.(=) p.(=)
./. - c.890+46C>T r.(=) p.(=)
./. - c.890+51A>C r.(=) p.(=)
./. - c.891-128G>A r.(=) p.(=)
./. - c.891-30G>A r.(=) p.(=)
./. - c.978C>T r.(=) p.(=)
./. - c.984+40C>T r.(=) p.(=)
./. - c.984+50G>A r.(=) p.(=)
./. - c.1050+81C>T r.(=) p.(=)
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