All transcript variants in gene ABCA13

Information The variants shown are described using the NM_152701.3 transcript reference sequence.

162 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Position     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Owner     
./. - c.287+6457A>G - r.(=) p.(=) g.48244414A>G dbSNP ABCA13_000144 rs6583476 0.27872 Admin
./. - c.287+7934A>T - r.(=) p.(=) g.48245891A>T dbSNP ABCA13_000145 rs10248319 0.24831 Admin
./. - c.288-4534A>G - - - g.48254417A>G dbSNP ABCA13_000146 rs10249357 0.56250 Admin
./. - c.469-1853A>G - r.(=) p.(=) g.48265006A>G dbSNP ABCA13_000147 rs2049512 0.17230 Admin
./. - c.469-1154C>G - - - g.48265705C>G dbSNP ABCA13_000104 rs17712043 0.10304 Admin
./. - c.469-664A>G - - - g.48266195A>G dbSNP ABCA13_000105 rs17712049 0.83784 Admin
./. - c.633-1118C>T - - - g.48268304C>T dbSNP ABCA13_000106 rs11768665 0.93919 Admin
./. - c.633-1085C>T - r.(=) p.(=) g.48268337C>T dbSNP ABCA13_000107 rs11977206 0.21959 Admin
./. - c.763+509C>T - r.(=) p.(=) g.48270061C>T dbSNP ABCA13_000108 rs17661073 0.89865 Admin
./. - c.897+467A>G - - - g.48274215A>G dbSNP ABCA13_000109 rs1880740 0.83108 Admin
./. - c.897+507A>G - - - g.48274255A>G dbSNP ABCA13_000110 rs11982920 0.96284 Admin
./. - c.897+806C>G - r.(=) p.(=) g.48274554C>G dbSNP ABCA13_000111 rs17132158 0.13514 Admin
./. - c.1062+533A>G - - - g.48279535A>G dbSNP ABCA13_000112 rs10278267 0.64189 Admin
./. - c.1062+599C>T - - - g.48279601C>T dbSNP ABCA13_000113 rs10245764 0.35304 Admin
./. - c.1263-1359A>G - - - g.48282814A>G dbSNP ABCA13_000094 rs17132163 0.86655 Admin
./. - c.1659+716C>T - - - g.48286343C>T dbSNP ABCA13_000095 rs17629765 0.67061 Admin
./. - c.1659+793A>G - - - g.48286420A>G dbSNP ABCA13_000096 rs12113721 0.83615 Admin
./. - c.1659+891A>G - - - g.48286518A>G dbSNP ABCA13_000097 rs12113727 0.96453 Admin
./. - c.2005+2259A>G - - - g.48291207A>G dbSNP ABCA13_000098 rs2049514 0.87500 Admin
./. - c.2005+3354C>T - - - g.48292302C>T dbSNP ABCA13_000099 rs6583461 0.33446 Admin
./. - c.2005+4156A>G - - - g.48293104A>G dbSNP ABCA13_000100 rs2049513 0.83108 Admin
./. - c.2006-5496A>G - - - g.48303081A>G dbSNP ABCA13_000001 rs1526096 0.62838 Admin
./. - c.2006-3168A>G - - - g.48305409A>G dbSNP ABCA13_000002 rs11977108 0.84291 Admin
./. - c.2006-3130A>G - - - g.48305447A>G dbSNP ABCA13_000003 rs11977113 0.88851 Admin
./. - c.2006-348A>G - - - g.48308229A>G dbSNP ABCA13_000004 rs9656611 0.89189 Admin
./. - c.8836+1616A>G - - - g.48322665A>G dbSNP ABCA13_000005 rs10499676 0.66047 Admin
./. - c.8836+1981C>T - - - g.48323030C>T dbSNP ABCA13_000006 rs9691909 0.91892 Admin
./. - c.8955+2612A>G - r.(=) p.(=) g.48330287A>G dbSNP ABCA13_000007 rs6970910 0.55236 Admin
./. - c.9120-370A>G - - - g.48336459A>G dbSNP ABCA13_000008 rs10254876 0.22973 Admin
./. - c.9135A>G - - - g.48336844A>G dbSNP ABCA13_000009 rs6583546 0.36655 Admin
./. - c.9321+627A>G - r.(=) p.(=) g.48338711A>G dbSNP ABCA13_000010 rs17132219 0.02365 Admin
./. - c.9321+1646A>G - r.(=) p.(=) g.48339730A>G dbSNP ABCA13_000011 rs6943725 0.50000 Admin
./. - c.9321+1949A>C - r.(=) p.(=) g.48340033A>C dbSNP ABCA13_000012 rs1852266 0.77534 Admin
./. - c.9322-43C>T - r.(=) p.(=) g.48349501C>T dbSNP ABCA13_000013 rs10480933 0.04392 Admin
./. - c.9425A>G - - - g.48349647A>G dbSNP ABCA13_000014 rs3931814 0.74493 Admin
./. - c.9859+692A>T - - - g.48354698A>T dbSNP ABCA13_000015 rs17661645 0.85473 Admin
./. - c.9859+814C>T - - - g.48354820C>T dbSNP ABCA13_000016 rs10248040 0.42568 Admin
./. - c.9999+2054C>T - r.(=) p.(=) g.48358947C>T dbSNP ABCA13_000017 rs10499679 0.04223 Admin
./. - c.9999+2701A>G - - - g.48359594A>G dbSNP ABCA13_000018 rs17661666 0.87838 Admin
./. - c.9999+3444G>T - - - g.48360337G>T dbSNP ABCA13_000019 rs6949736 0.30743 Admin
./. - c.9999+3871C>T - r.(=) p.(=) g.48360764C>T dbSNP ABCA13_000020 rs1012371 0.67568 Admin
./. - c.9999+7352C>T - - - g.48364245C>T dbSNP ABCA13_000021 rs4024044 0.83446 Admin
./. - c.10000-6797C>T - - - g.48368222C>T dbSNP ABCA13_000022 rs17712690 0.95101 Admin
./. - c.10000-3189A>C - - - g.48371830A>C dbSNP ABCA13_000023 rs1433502 0.95946 Admin
./. - c.10113+735A>G - - - g.48375867A>G dbSNP ABCA13_000024 rs11972807 0.98818 Admin
./. - c.10114-1179C>T - - - g.48376783C>T dbSNP ABCA13_000025 rs11978596 0.98142 Admin
./. - c.10204+2626A>T - r.(=) p.(=) g.48380678A>T dbSNP ABCA13_000101 rs6974064 0.80574 Admin
./. - c.10204+2744C>T - - - g.48380796C>T dbSNP ABCA13_000102 rs17661752 0.87669 Admin
./. - c.10204+3850C>G - r.(=) p.(=) g.48381902C>G dbSNP ABCA13_000103 rs12534609 0.88007 Admin
./. - c.10205-5655C>T - - - g.48384585C>T dbSNP ABCA13_000162 rs13231603 0.33784 Admin
./. - c.10205-1239C>T - - - g.48389001C>T dbSNP ABCA13_000159 rs17132246 0.98480 Admin
./. - c.10688+687A>C - - - g.48392771A>C dbSNP ABCA13_000160 rs11983883 0.15203 Admin
./. - c.10804-2126C>T - - - g.48409639C>T dbSNP ABCA13_000161 rs2117089 0.06757 Admin
./. - c.11473+319A>G - r.(=) p.(=) g.48427875A>G dbSNP ABCA13_000156 rs17132284 0.01689 Admin
./. - c.11474-456C>T - - - g.48428181C>T dbSNP ABCA13_000157 rs17132286 0.21284 Admin
./. - c.11552A>T - r.(?) p.(Tyr3851Phe) g.48428715A>T dbSNP ABCA13_000158 rs17132289 0.86318 Admin
./. - c.11873+586C>T - - - g.48432322C>T dbSNP ABCA13_000148 rs6955132 0.78547 Admin
./. - c.11873+4573C>T - - - g.48436309C>T dbSNP ABCA13_000149 rs1560792 0.33446 Admin
./. - c.11873+4759A>G - - - g.48436495A>G dbSNP ABCA13_000150 rs2163935 0.12162 Admin
./. - c.11874-2417C>T - - - g.48440863C>T dbSNP ABCA13_000151 rs7785745 0.83277 Admin
./. - c.11874-164C>T - - - g.48443116C>T dbSNP ABCA13_000152 rs10236551 0.73649 Admin
./. - c.11874-104A>G - - - g.48443176A>G dbSNP ABCA13_000153 rs10240195 0.17568 Admin
./. - c.12070+94A>G - - - g.48443570A>G dbSNP ABCA13_000154 rs6978753 0.57264 Admin
./. - c.12070+1620A>T - r.(=) p.(=) g.48445096A>T dbSNP ABCA13_000155 rs1433501 0.17736 Admin
./. - c.12070+1674A>G - r.(=) p.(=) g.48445150A>G dbSNP ABCA13_000133 rs7802110 0.24831 Admin
./. - c.12071-2149G>T - - - g.48447968G>T dbSNP ABCA13_000134 rs10235064 0.99831 Admin
./. - c.12111C>T - - - g.48450157C>T dbSNP ABCA13_000114 rs17548783 0.51182 Admin
./. - c.12459+1329A>G - - - g.48453509A>G dbSNP ABCA13_000115 rs17729597 0.84291 Admin
./. - c.12459+1720C>T - - - g.48453900C>T dbSNP ABCA13_000116 rs6966506 0.15034 Admin
./. - c.12459+1846C>T - - - g.48454026C>T dbSNP ABCA13_000117 rs6951346 0.84291 Admin
./. - c.12459+2287C>T - - - g.48454467C>T dbSNP ABCA13_000118 rs17729627 0.16047 Admin
./. - c.12459+2525C>T - - - g.48454705C>T dbSNP ABCA13_000119 rs17662100 0.83615 Admin
./. - c.12459+2586A>G - r.(=) p.(=) g.48454766A>G dbSNP ABCA13_000120 rs17729647 0.15372 Admin
./. - c.12459+3715G>T - r.(=) p.(=) g.48455895G>T dbSNP ABCA13_000121 rs4147298 0.40878 Admin
./. - c.12459+4159A>T - r.(=) p.(=) g.48456339A>T dbSNP ABCA13_000122 rs1368654 0.37838 Admin
./. - c.12459+4331A>G - - - g.48456511A>G dbSNP ABCA13_000123 rs7778020 0.91047 Admin
./. - c.12459+4706A>T - r.(=) p.(=) g.48456886A>T dbSNP ABCA13_000026 rs41432151 0.94595 Admin
./. - c.12459+4745A>G - - - g.48456925A>G dbSNP ABCA13_000027 rs41329345 0.22128 Admin
./. - c.12459+4876G>T - - - g.48457056G>T dbSNP ABCA13_000028 rs17630775 0.03378 Admin
./. - c.12459+4908C>T - - - g.48457088C>T dbSNP ABCA13_000029 rs2060330 0.32601 Admin
./. - c.12460-6885G>T - r.(=) p.(=) g.48460478G>T dbSNP ABCA13_000030 rs2362300 0.32939 Admin
./. - c.12460-6783A>G - - - g.48460580A>G dbSNP ABCA13_000031 rs12718265 0.83953 Admin
./. - c.12460-6727A>G - - - g.48460636A>G dbSNP ABCA13_000032 rs2362301 0.83108 Admin
./. - c.12460-5319A>G - - - g.48462044A>G dbSNP ABCA13_000033 rs1109443 0.10811 Admin
./. - c.12565+2039C>T - - - g.48469507C>T dbSNP ABCA13_000034 rs6957156 0.26858 Admin
./. - c.12565+9942A>T - r.(=) p.(=) g.48477410A>T dbSNP ABCA13_000035 rs10234238 0.73142 Admin
./. - c.12565+12152A>G - - - g.48479620A>G dbSNP ABCA13_000036 rs12154722 0.12838 Admin
./. - c.12566-12390C>T - - - g.48482244C>T dbSNP ABCA13_000037 rs1433505 0.70270 Admin
./. - c.12566-10669C>T - - - g.48483965C>T dbSNP ABCA13_000038 rs12718274 0.72635 Admin
./. - c.12566-10517A>G - r.(=) p.(=) g.48484117A>G dbSNP ABCA13_000039 rs13227183 0.28041 Admin
./. - c.12566-10369G>T - - - g.48484265G>T dbSNP ABCA13_000040 rs17132335 0.10135 Admin
./. - c.12566-6648C>G - r.(=) p.(=) g.48487986C>G dbSNP ABCA13_000041 rs11185606 0.71284 Admin
./. - c.12566-5274A>T - r.(=) p.(=) g.48489360A>T dbSNP ABCA13_000042 rs1433498 0.27365 Admin
./. - c.12566-1237A>T - - - g.48493397A>T dbSNP ABCA13_000043 rs12540368 0.18412 Admin
./. - c.12815+837A>G - r.(=) p.(=) g.48495720A>G dbSNP ABCA13_000044 rs4917141 0.18750 Admin
./. - c.12815+1122C>T - - - g.48496005C>T dbSNP ABCA13_000045 rs2043391 0.76858 Admin
./. - c.12815+2684C>G - r.(=) p.(=) g.48497567C>G dbSNP ABCA13_000046 rs10267753 0.81588 Admin
./. - c.12815+2721C>G - - - g.48497604C>G dbSNP ABCA13_000047 rs10256255 0.18581 Admin
./. - c.12815+3168C>T - - - g.48498051C>T dbSNP ABCA13_000048 rs1975193 0.02534 Admin
./. - c.12815+5574C>T - - - g.48500457C>T dbSNP ABCA13_000049 rs10227179 0.82432 Admin
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