Transcript #00015975

Transcript name sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein), transcript variant 1
Gene name SGCA (sarcoglycan alpha)
Chromosome 17
Transcript - NCBI ID NM_000023.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000014.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

46 entries on 1 page. Showing entries 1 - 46.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-90C>A r.(=) p.(=)
./. - c.-9C>T r.(=) p.(=)
./. - c.-8G>A r.(=) p.(=)
./. - c.37+23G>A r.(=) p.(=)
./. - c.37+66C>T r.(=) p.(=)
./. - c.37+186C>T r.(=) p.(=)
./. - c.38-96C>T r.(=) p.(=)
./. - c.38-46G>C r.(=) p.(=)
./. - c.38-30G>A r.(=) p.(=)
./. - c.158-11G>A r.(=) p.(=)
./. - c.312+31G>T r.(=) p.(=)
./. - c.312+83C>T r.(=) p.(=)
./. - c.313-39C>A r.(=) p.(=)
./. - c.421C>A r.(?) p.(Arg141Ser)
./. - c.528C>T r.(=) p.(=)
./. - c.584+100C>T r.(=) p.(=)
./. - c.585-131T>G r.(=) p.(=)
./. - c.585-123G>T r.(=) p.(=)
./. - c.690G>C r.(=) p.(=)
./. - c.747+87G>A r.(=) p.(=)
./. - c.747+124A>T r.(=) p.(=)
./. - c.843C>A r.(=) p.(=)
./. - c.850C>T r.(?) p.(Arg284Cys)
./. - c.933C>T r.(=) p.(=)
./. - c.957-50del r.(=) p.(=)
./. - c.983+53G>C r.(=) p.(=)
./. - c.983+56C>A r.(=) p.(=)
./. - c.983+148C>T r.(=) p.(=)
./. - c.983+879C>G r.(=) p.(=)
./. - c.983+893C>T r.(=) p.(=)
./. - c.983+971C>T r.(=) p.(=)
./. - c.983+1120C>T r.(=) p.(=)
./. - c.983+1343G>A r.(=) p.(=)
./. - c.983+1365C>T r.(=) p.(=)
./. - c.983+1423C>G r.(=) p.(=)
./. - c.983+1451G>T r.(=) p.(=)
./. - c.983+1574C>T r.(=) p.(=)
./. - c.983+1594G>C r.(=) p.(=)
./. - c.983+1737C>T r.(=) p.(=)
./. - c.983+1774C>A r.(=) p.(=)
./. - c.*6T>C r.(=) p.(=)
./. - c.*10C>G r.(=) p.(=)
./. - c.*12+24C>T r.(=) p.(=)
./. - c.*92C>T r.(=) p.(=)
./. - c.*134del r.(=) p.(=)
./. - c.*166A>G r.(=) p.(=)
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