Transcript #00003124

Transcript name ATP-binding cassette, sub-family C (CFTR/MRP), member 8
Gene name ABCC8 (ATP-binding cassette, sub-family C (CFTR/MRP), member 8)
Chromosome 11
Transcript - NCBI ID NM_000352.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000343.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

3 entries on 1 page. Showing entries 1 - 3.
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Affects function     

AscendingDNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
+/+ c.1744C>G p.(Leu582Val) missense_variant - 12/39 possibly_damaging(0.842) r.(?) tolerated(0.08)
+?/+? c.4135C>A p.(Arg1379Ser) missense_variant - 34/39 probably_damaging(1) r.(?) deleterious(0)
+?/+? c.4135C>T p.(Arg1379Cys) missense_variant - 34/39 probably_damaging(1) r.(?) deleterious(0)
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