Transcript #00014933

Transcript name ATP-binding cassette, sub-family A (ABC1), member 8, transcript variant 2
Gene name ABCA8 (ATP binding cassette subfamily A member 8)
Chromosome 17
Transcript - NCBI ID NM_007168.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_009099.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

29 entries on 1 page. Showing entries 1 - 29.
Legend  

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-5-5557T>C r.(=) p.(=)
./. - c.97-157T>C r.(=) p.(=)
./. - c.302-544G>A - -
./. - c.466+90T>C - -
./. - c.571-32G>A - -
./. - c.793G>A - -
./. - c.797+1010G>A - -
./. - c.798-66T>C r.(=) p.(=)
./. - c.939+29G>A - -
./. - c.1443-387T>C r.(=) p.(=)
./. - c.2278+971C>A - -
./. - c.2279-1154C>A - -
./. - c.2279-69G>C - -
./. - c.2477+153G>A - -
./. - c.2477+182T>C - -
./. - c.2644+1315T>C r.(=) p.(=)
./. - c.2645-873T>C - -
./. - c.3025-1878G>A - -
./. - c.3025-1724G>A - -
./. - c.3025-1231G>A - -
./. - c.3709-256T>A r.(=) p.(=)
./. - c.3827-311G>C - -
./. - c.4123G>C r.(?) p.(Val1375Leu)
./. - c.4251-200G>C - -
./. - c.4511+1172T>C - -
./. - c.4511+2081T>C - -
./. - c.4591+259T>C - -
./. - c.4591+346G>A - -
./. - c.4591+376G>C - -
Legend