Transcript #00016788

Transcript name R3H domain containing 4
Gene name R3HDM4 (R3H domain containing 4)
Chromosome 19
Transcript - NCBI ID NM_138774.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_620129.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

42 entries on 1 page. Showing entries 1 - 42.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.71+36G>C r.(=) p.(=)
./. - c.71+39C>G r.(=) p.(=)
./. - c.71+42_71+43insG r.(=) p.(=)
./. - c.71+45G>T r.(=) p.(=)
./. - c.226+21G>A r.(=) p.(=)
./. - c.226+27T>C r.(=) p.(=)
./. - c.226+103G>A r.(=) p.(=)
./. - c.226+107C>A r.(=) p.(=)
./. - c.226+111G>T r.(=) p.(=)
./. - c.226+120G>A r.(=) p.(=)
./. - c.226+141G>C r.(=) p.(=)
./. - c.226+143G>A r.(=) p.(=)
./. - c.227-177C>T r.(=) p.(=)
./. - c.227-107C>T r.(=) p.(=)
./. - c.266T>C r.(?) p.(Leu89Pro)
./. - c.322G>C r.(?) p.(Glu108Gln)
./. - c.351+20del r.(=) p.(=)
./. - c.352-4C>T r.spl? p.?
./. - c.353T>C r.(?) p.(Val118Ala)
./. - c.475+40T>C r.(=) p.(=)
./. - c.476-40G>C r.(=) p.(=)
./. - c.561G>A r.(?) p.(Met187Ile)
./. - c.561+17C>T r.(=) p.(=)
./. - c.561+83C>T r.(=) p.(=)
./. - c.561+131C>G r.(=) p.(=)
./. - c.561+162G>A r.(=) p.(=)
./. - c.562-17C>T r.(=) p.(=)
./. - c.587G>A r.(?) p.(Arg196Gln)
./. - c.647+5G>C r.spl? p.?
./. - c.647+34G>C r.(=) p.(=)
./. - c.648-8C>T r.(=) p.(=)
./. - c.699G>A r.(=) p.(=)
./. - c.703+7G>A r.(=) p.(=)
./. - c.703+145G>C r.(=) p.(=)
./. - c.704-61A>G r.(=) p.(=)
./. - c.704-31C>G r.(=) p.(=)
./. - c.725G>A r.(?) p.(Arg242Gln)
./. - c.765G>A r.(=) p.(=)
./. - c.*12C>T r.(=) p.(=)
./. - c.*13G>A r.(=) p.(=)
./. - c.*32C>T r.(=) p.(=)
./. - c.*149G>C r.(=) p.(=)
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