Transcript #00001880

Transcript name ATP-binding cassette, sub-family C (CFTR/MRP), member 12
Gene name ABCC12 (ATP-binding cassette, sub-family C (CFTR/MRP), member 12)
Chromosome 16
Transcript - NCBI ID NM_033226.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_150229.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

5 entries on 1 page. Showing entries 1 - 5.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
./. - c.490G>T - r.(?) p.(Gly164*)
./. - c.3071G>A - r.(?) p.(Trp1024*)
./. - c.3071G>A - r.(?) p.(Trp1024*)
./. - c.3071G>A - r.(?) p.(Trp1024*)
-?/. - c.3655G>A likely benign r.(?) p.(Glu1219Lys)
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