All transcript variants in gene ABCA8

Information The variants shown are described using the NM_007168.2 transcript reference sequence.

36 entries on 1 page. Showing entries 1 - 36.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

GVS function     

DNA change (genomic) (hg19)     

DB-ID     

dbSNP ID     

PhyloP conservation     

Owner     
?/? c.-5164C>A r.(=) p.(=) utr-5 g.66956518G>T chr17_018089 rs55946871 0.2 Ivo F.A.C. Fokkema
?/? c.-4321A>T r.(=) p.(=) utr-5 g.66955675T>A chr17_018088 rs34944606 0.178 Ivo F.A.C. Fokkema
?/? c.-1106C>T r.(=) p.(=) utr-5 g.66952460G>A chr17_018087 rs11077828 0.004 Ivo F.A.C. Fokkema
?/? c.-6+2405G>A r.(=) p.(=) intron g.66948955C>T chr17_018086 rs1990334 -0.898 Ivo F.A.C. Fokkema
?/? c.-6+2852G>A r.(=) p.(=) intron g.66948508C>T chr17_018085 rs8079972 -1.487 Ivo F.A.C. Fokkema
?/? c.-6+3264A>G r.(=) p.(=) intron g.66948096T>C chr17_018084 rs8072891 -0.049 Ivo F.A.C. Fokkema
?/? c.-6+3406T>C r.(=) p.(=) intron g.66947954A>G chr17_018083 rs8068037 -0.07 Ivo F.A.C. Fokkema
?/? c.-6+3505A>T r.(=) p.(=) intron g.66947855T>A chr17_018082 - -1.72 Ivo F.A.C. Fokkema
?/? c.-6+4106C>A r.(=) p.(=) intron g.66947254G>T chr17_018081 rs11655684 0.233 Ivo F.A.C. Fokkema
?/? c.-6+4936A>C r.(=) p.(=) intron g.66946424T>G chr17_018080 rs4968827 0.267 Ivo F.A.C. Fokkema
?/? c.-6+5171T>G r.(=) p.(=) intron g.66946189A>C chr17_018079 rs4968978 -1.871 Ivo F.A.C. Fokkema
?/? c.-6+5332C>T r.(=) p.(=) intron g.66946028G>A chr17_018078 rs7225473 -1.888 Ivo F.A.C. Fokkema
?/? c.-6+6518G>A r.(=) p.(=) intron g.66944842C>T chr17_018077 rs2191214 0.122 Ivo F.A.C. Fokkema
?/? c.-5-6462C>A r.(=) p.(=) intron g.66944642G>T chr17_018076 rs114618762 0.122 Ivo F.A.C. Fokkema
?/? c.-5-6177T>A r.(=) p.(=) intron g.66944357A>T chr17_018075 rs8075514 -2.035 Ivo F.A.C. Fokkema
?/? c.-5-5558T>C r.(=) p.(=) intron g.66943738A>G chr17_018074 rs4147951 -1.696 Ivo F.A.C. Fokkema
?/? c.-5-5460C>T r.(=) p.(=) intron g.66943640G>A chr17_018073 rs4147953 -1.376 Ivo F.A.C. Fokkema
?/? c.-5-4910C>T r.(=) p.(=) intron g.66943090G>A chr17_018072 rs66776659 0 Ivo F.A.C. Fokkema
?/? c.-5-4817C>T r.(=) p.(=) intron g.66942997G>A chr17_018071 rs11650211 -0.734 Ivo F.A.C. Fokkema
?/? c.-5-4327C>T r.(=) p.(=) intron g.66942507G>A chr17_018070 rs11658489 0.686 Ivo F.A.C. Fokkema
?/? c.-5-4148A>G r.(=) p.(=) intron g.66942328T>C chr17_018069 rs11077819 -0.947 Ivo F.A.C. Fokkema
?/? c.-5-4086C>A r.(=) p.(=) intron g.66942266G>T chr17_018068 rs11077818 -1.065 Ivo F.A.C. Fokkema
?/? c.-5-3783G>A r.(=) p.(=) intron g.66941963C>T chr17_018067 rs4147954 -0.408 Ivo F.A.C. Fokkema
?/? c.-5-3661T>C r.(=) p.(=) intron g.66941841A>G chr17_018066 rs4147955 -0.254 Ivo F.A.C. Fokkema
?/? c.-5-3294T>A r.(=) p.(=) intron g.66941474A>T chr17_018065 rs35170392 -0.209 Ivo F.A.C. Fokkema
?/? c.-5-2775T>G r.(=) p.(=) intron g.66940955A>C chr17_018064 rs149364629 -0.826 Ivo F.A.C. Fokkema
?/? c.-5-2320A>G r.(=) p.(=) intron g.66940500T>C chr17_018063 rs72378860 -0.381 Ivo F.A.C. Fokkema
?/? c.-5-2278A>T r.(=) p.(=) intron g.66940458T>A chr17_018062 rs6146129 -3.461 Ivo F.A.C. Fokkema
?/? c.-5-1300G>C r.(=) p.(=) intron g.66939480C>G chr17_018061 rs1860445 -3.01 Ivo F.A.C. Fokkema
?/? c.-5-1294C>T r.(=) p.(=) intron g.66939474G>A chr17_018060 rs1860446 -0.417 Ivo F.A.C. Fokkema
?/? c.-5-839G>T r.(=) p.(=) intron g.66939019C>A chr17_018059 rs887380 0.423 Ivo F.A.C. Fokkema
?/? c.-5-80T>C r.(=) p.(=) intron g.66938260A>G chr17_018058 rs4147957 -0.94 Ivo F.A.C. Fokkema
?/? c.-5-52T>C r.(=) p.(=) intron g.66938232A>G chr17_018057 rs4147958 1.177 Ivo F.A.C. Fokkema
?/? c.4122C>G r.(?) p.(=) coding-synonymous g.66872802G>C chr17_018056 rs1481 -3.651 Ivo F.A.C. Fokkema
?/? c.*2564C>A r.(=) p.(=) utr-3 g.66861662G>T chr17_018055 rs9747417 -2.065 Ivo F.A.C. Fokkema
?/? c.*3643T>A r.(=) p.(=) utr-3 g.66860583A>T chr17_018054 rs16973376 0.046 Ivo F.A.C. Fokkema
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