Transcript #00010108

Transcript name ATP-binding cassette, sub-family C (CFTR/MRP), member 8, transcript variant 2
Gene name ABCC8 (ATP binding cassette subfamily C member 8)
Chromosome 11
Transcript - NCBI ID NM_000352.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_000343.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

51 entries on 1 page. Showing entries 1 - 51.
Legend  

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.148+715G>A - -
./. - c.208T>C - -
./. - c.290+1254G>A - -
./. - c.291-1412T>C - -
./. - c.291-894T>C - -
./. - c.412+2988T>G - -
./. - c.1011+1871C>A - -
./. - c.1011+3047T>C - -
./. - c.1012-3373G>C - -
./. - c.1012-1685T>G - -
./. - c.1012-1629G>C r.(=) p.(=)
./. - c.1012-612T>C - -
./. - c.1012-452T>C - -
./. - c.1177-1468G>C - -
./. - c.1332+598T>C - -
./. - c.1332+1747G>A r.(=) p.(=)
./. - c.1333-2477G>A r.(=) p.(=)
./. - c.1333-2343G>A - -
./. - c.1333-1031T>C - -
./. - c.1630+1410G>A - -
./. - c.1630+2522G>C r.(=) p.(=)
./. - c.1630+2725G>A - -
./. - c.1630+3248C>A r.(=) p.(=)
./. - c.1630+3556T>C r.(=) p.(=)
./. - c.1630+4184T>A r.(=) p.(=)
./. - c.1630+4417G>A - -
./. - c.1630+4919T>A r.(=) p.(=)
./. - c.1630+5150T>A - -
./. - c.1630+5161G>A - -
./. - c.1631-4344T>C - -
./. - c.1631-1579G>A r.(=) p.(=)
./. - c.1671+309G>A r.(=) p.(=)
./. - c.2117-300T>C - -
./. - c.2222+1635T>A r.(=) p.(=)
./. - c.2222+3571G>A - -
./. - c.2222+5010T>C r.(=) p.(=)
./. - c.2223-3950T>A - -
./. - c.2223-3318T>C r.(=) p.(=)
./. - c.2223-2875G>A r.(=) p.(=)
./. - c.2223-1719G>A r.(=) p.(=)
./. - c.2223-380T>G - -
./. - c.2391-188G>A r.(=) p.(=)
./. - c.2476-309T>C - -
./. - c.2694+703T>C - -
./. - c.2694+854T>C r.(=) p.(=)
./. - c.3329+269G>C - -
./. - c.3330-252T>C - -
./. - c.3558-410G>A - -
./. - c.3651-1871T>C r.(=) p.(=)
./. - c.3651-1484G>A r.(=) p.(=)
./. - c.3651-1104G>A - -
Legend