All transcript variants in gene ABCA12

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

17 entries on 1 page. Showing entries 1 - 17.


AscendingDNA change (cDNA)     

RNA change     


GVS function     

DNA change (genomic) (hg19)     


dbSNP ID     

PhyloP conservation     

?/? c.-5041G>T r.(=) p.(=) utr-5 g.216007972C>A chr2_027791 rs1965505 -0.811 Ivo F.A.C. Fokkema
?/? c.-5001A>C r.(=) p.(=) utr-5 g.216007932T>G chr2_027790 rs1965504 -1.219 Ivo F.A.C. Fokkema
?/? c.-4909A>G r.(=) p.(=) utr-5 g.216007840T>C chr2_027789 rs1965503 -0.501 Ivo F.A.C. Fokkema
?/? c.-4714A>T r.(=) p.(=) utr-5 g.216007645T>A chr2_027788 rs2970970 0.696 Ivo F.A.C. Fokkema
?/? c.-3018C>T r.(=) p.(=) utr-5 g.216005949G>A chr2_027787 rs2970969 0.2 Ivo F.A.C. Fokkema
?/? c.-2031T>G r.(=) p.(=) utr-5 g.216004962A>C chr2_027786 rs2948984 1.289 Ivo F.A.C. Fokkema
?/? c.-1003G>A r.(=) p.(=) utr-5 g.216003934C>T chr2_027785 rs2948983 0.906 Ivo F.A.C. Fokkema
?/? c.-881T>C r.(=) p.(=) utr-5 g.216003812A>G chr2_027784 rs2948982 0.252 Ivo F.A.C. Fokkema
?/? c.-476A>G r.(=) p.(=) utr-5 g.216003407T>C chr2_027783 rs2948981 2.327 Ivo F.A.C. Fokkema
?/? c.164-30C>G r.(=) p.(=) intron g.215928972G>C chr2_027782 rs1523721 -0.088 Ivo F.A.C. Fokkema
?/? c.2329T>A r.(?) p.(Ser777Thr) missense g.215876166A>T chr2_027771 rs7560008 -0.851 Ivo F.A.C. Fokkema
?/? c.3033A>G r.(?) p.(=) coding-synonymous g.215865575T>C chr2_027770 rs10498030 0.602 Ivo F.A.C. Fokkema
?/? c.3294+36C>T r.(=) p.(=) intron g.215862383G>A chr2_027769 rs1980844 -0.254 Ivo F.A.C. Fokkema
?/? c.3295-25C>T r.(=) p.(=) intron g.215855780G>A chr2_027768 rs4533467 -0.368 Ivo F.A.C. Fokkema
?/? c.4163+20T>C r.(=) p.(=) intron g.215851246A>G chr2_027767 rs7559069 -2.759 Ivo F.A.C. Fokkema
?/? c.5778+29T>C r.(=) p.(=) intron g.215833415A>G chr2_027766 rs4673925 -0.287 Ivo F.A.C. Fokkema
?/? c.6306C>T r.(?) p.(=) coding-synonymous g.215820013G>A chr2_027765 rs10498027 -0.22 Ivo F.A.C. Fokkema