Transcript #00000073

Transcript name ATP-binding cassette, sub-family D (ALD), member 2
Gene name ABCD2 (ATP-binding cassette, sub-family D (ALD), member 2)
Chromosome 12
Transcript - NCBI ID NM_005164.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_005155.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

79 entries on 1 page. Showing entries 1 - 79.
Legend  

Affects function     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? c.-49G>C r.(=) p.(=)
?/? c.26C>G r.(?) p.(Ala9Gly)
?/? c.126G>C r.(?) p.(Lys42Asn)
?/? c.140C>G r.(?) p.(Ser47Cys)
?/? c.188C>G r.(?) p.(Thr63Arg)
?/? c.207C>T r.(=) p.(=)
?/? c.241A>C r.(?) p.(Asn81His)
?/? c.265C>T r.(=) p.(=)
?/? c.268G>A r.(?) p.(Glu90Lys)
?/? c.292A>G r.(?) p.(Lys98Glu)
?/? c.334G>C r.(?) p.(Val112Leu)
?/? c.339T>C r.(=) p.(=)
?/? c.366C>G r.(?) p.(Ile122Met)
?/? c.376G>T r.(?) p.(Gly126Cys)
?/? c.454A>G r.(?) p.(Met152Val)
?/? c.546C>T r.(=) p.(=)
?/? c.557C>T r.(?) p.(Thr186Ile)
?/? c.565A>T r.(?) p.(Thr189Ser)
?/? c.611C>T r.(?) p.(Ala204Val)
?/? c.633G>A r.(=) p.(=)
?/? c.758C>A r.(?) p.(Pro253Gln)
?/? c.761T>C r.(?) p.(Ile254Thr)
?/? c.865A>T r.(?) p.(Lys289*)
?/? c.877C>T r.(?) p.(Arg293Trp)
?/? c.891G>A r.(=) p.(=)
?/? c.939+31T>A r.(=) p.(=)
?/? c.940-10C>A r.(=) p.(=)
?/? c.1042A>T r.(?) p.(Met348Leu)
?/? c.1047G>A r.(=) p.(=)
?/? c.1120+8C>T r.(=) p.(=)
?/? c.1120+18T>C r.(=) p.(=)
?/? c.1120+34T>G r.(=) p.(=)
?/? c.1121-40A>C r.(=) p.(=)
?/? c.1121-3T>G r.spl? p.?
?/? c.1121-2A>C r.spl? p.?
?/? c.1142T>C r.(?) p.(Met381Thr)
?/? c.1154G>A r.(?) p.(Arg385Gln)
?/? c.1173T>C r.(=) p.(=)
?/? c.1237-45T>C r.(=) p.(=)
?/? c.1237-36T>C r.(=) p.(=)
?/? c.1237-21A>G r.(=) p.(=)
?/? c.1314T>C r.(=) p.(=)
?/? c.1336G>T r.(?) p.(Glu446*)
?/? c.1371A>T r.(=) p.(=)
?/? c.1391C>T r.(?) p.(Thr464Ile)
?/? c.1405+37del r.(=) p.(=)
?/? c.1406-59_1406-55del r.(=) p.(=)
?/? c.1406-43A>G r.(=) p.(=)
?/? c.1460C>T r.(?) p.(Thr487Ile)
?/? c.1500+11A>G r.(=) p.(=)
?/? c.1500+47A>G r.(=) p.(=)
?/? c.1500+48C>T r.(=) p.(=)
?/? c.1501-8T>C r.(=) p.(=)
?/? c.1524G>A r.(=) p.(=)
?/? c.1646+11C>A r.(=) p.(=)
?/? c.1647-41T>C r.(=) p.(=)
?/? c.1647-28G>A r.(=) p.(=)
?/? c.1683C>A r.(=) p.(=)
?/? c.1745G>A r.(?) p.(Arg582His)
?/? c.1775T>A r.(?) p.(Ile592Lys)
?/? c.1792+16C>A r.(=) p.(=)
?/? c.1792+43T>A r.(=) p.(=)
?/? c.1793-39A>C r.(=) p.(=)
?/? c.1793-30T>C r.(=) p.(=)
?/? c.1793-17T>A r.(=) p.(=)
?/? c.1819G>A r.(?) p.(Asp607Asn)
?/? c.1856T>C r.(?) p.(Met619Thr)
?/? c.1877+23A>G r.(=) p.(=)
?/? c.1877+33C>T r.(=) p.(=)
?/? c.1878-37A>G r.(=) p.(=)
?/? c.1878-24A>C r.(=) p.(=)
?/? c.1878-18G>C r.(=) p.(=)
?/? c.1929C>T r.(=) p.(=)
?/? c.2003+39T>C r.(=) p.(=)
?/? c.2052C>T r.(=) p.(=)
?/? c.2078G>A r.(?) p.(Arg693His)
?/? c.2184A>C r.(=) p.(=)
?/? c.2199T>C r.(=) p.(=)
?/? c.*20A>C r.(=) p.(=)
Legend