Transcript #00005838

Transcript name transcript variant 1
Gene name ABCA12 (ATP binding cassette subfamily A member 12)
Chromosome 2
Transcript - NCBI ID NM_173076.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_775099.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

64 entries on 1 page. Showing entries 1 - 64.
Legend  

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.69+35G>A r.(=) p.(=)
./. - c.70-9116G>A r.(=) p.(=)
./. - c.163+3977T>C - -
./. - c.163+4261T>G - -
./. - c.163+6022T>G - -
./. - c.164-23424C>A r.(=) p.(=)
./. - c.164-23132G>A - -
./. - c.164-22687G>A r.(=) p.(=)
./. - c.164-20187G>A - -
./. - c.164-12677G>A r.(=) p.(=)
./. - c.164-9246G>A - -
./. - c.164-9007T>C - -
./. - c.164-8922T>C - -
./. - c.164-7316T>C r.(=) p.(=)
./. - c.164-7256G>A - -
./. - c.164-6036C>A - -
./. - c.164-5805G>A - -
./. - c.164-2962T>C - -
./. - c.317+699T>C - -
./. - c.317+4304G>A - -
./. - c.318-4684G>C - -
./. - c.318-3880T>C r.(=) p.(=)
./. - c.318-3799G>A - -
./. - c.410-753G>A - -
./. - c.410-480T>C r.(=) p.(=)
./. - c.410-219T>G - -
./. - c.508-369T>C - -
./. - c.508-198C>A - -
./. - c.553G>A - -
./. - c.694-691T>A - -
./. - c.872+740G>A r.(=) p.(=)
./. - c.872+2336G>C - -
./. - c.872+3123C>A - -
./. - c.873-2011T>C - -
./. - c.985+302T>C - -
./. - c.985+539T>C - -
./. - c.985+1591T>C r.(=) p.(=)
./. - c.985+1824T>A - -
./. - c.1062-1179T>C - -
./. - c.1062-1073G>A - -
./. - c.2125T>C - -
./. - c.2332+226T>C - -
./. - c.2592+892G>C - -
./. - c.2592+1396G>A r.(=) p.(=)
./. - c.5128+209G>A r.(=) p.(=)
./. - c.5129-1129G>A - -
./. - c.5129-911G>A r.(=) p.(=)
./. - c.5129-67T>C r.(=) p.(=)
./. - c.5381+96C>A - -
./. - c.5401T>C - -
./. - c.5690+322G>A r.(=) p.(=)
./. - c.5778+108T>G - -
./. - c.5779-833T>C - -
./. - c.5779-769C>A r.(=) p.(=)
./. - c.5779-65G>A r.(=) p.(=)
./. - c.5885-802T>C r.(=) p.(=)
./. - c.5885-179T>C - -
./. - c.6233+467G>A - -
./. - c.6307G>A r.(?) p.(Val2103Ile)
./. - c.6393+424G>A - -
./. - c.7542+1525G>A - -
./. - c.7680+301T>C r.(=) p.(=)
./. - c.7680+395T>C - -
./. - c.7680+572G>A - -
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