Full data view for gene ABCA12

Information The variants shown are described using the NM_173076.2 transcript reference sequence.

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

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Heterozygote     

Homozygous     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
./. - c.69+35G>A r.(=) p.(=) Unknown g.215138105C>T - ABCA12_000043 rs41329246 0.9456 31 305 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.70-9116G>A r.(=) p.(=) Unknown g.215120806C>T - ABCA12_000042 rs10932590 0.1647 90 11 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.163+3977T>C - - Unknown g.215107620A>G - ABCA12_000041 rs16853364 0.0382 16 5 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.163+4261T>G - - Unknown g.215107336A>C - ABCA12_000040 rs2970963 0.0574 30 4 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.163+6022T>G - - Unknown g.215105575A>C - ABCA12_000039 rs2948975 0.2912 109 44 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.164-23424C>A r.(=) p.(=) Unknown g.215087643G>T - ABCA12_000038 rs11893734 0.0221 15 0 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.164-23132G>A - - Unknown g.215087351C>T - ABCA12_000037 rs16853341 0.8765 67 264 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.164-22687G>A r.(=) p.(=) Unknown g.215086906C>T - ABCA12_000036 rs940274 0.0912 52 5 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.164-20187G>A - - Unknown g.215084406C>T - ABCA12_000035 rs1523718 0.6485 147 146 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.164-12677G>A r.(=) p.(=) Unknown g.215076896C>T - ABCA12_000034 rs6731654 0.2750 121 33 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.164-9246G>A - - Unknown g.215073465C>T - ABCA12_000033 rs1403826 0.3382 150 40 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.164-9007T>C - - Unknown g.215073226A>G - ABCA12_000032 rs10187636 0.0838 52 2 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.164-8922T>C - - Unknown g.215073141A>G - ABCA12_000031 rs6744831 0.5515 158 108 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.164-7316T>C r.(=) p.(=) Unknown g.215071535A>G - ABCA12_000030 rs4673939 0.5074 153 96 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.164-7256G>A - - Unknown g.215071475C>T - ABCA12_000029 rs16853324 0.0882 52 4 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.164-6036C>A - - Unknown g.215070255G>T - ABCA12_000028 rs16853315 0.0235 8 4 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.164-5805G>A - - Unknown g.215070024C>T - ABCA12_000027 rs10177417 0.4397 162 68 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.164-2962T>C - - Unknown g.215067181A>G - ABCA12_000026 rs10498031 0.5779 150 121 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.317+699T>C - - Unknown g.215063367A>G - ABCA12_000047 rs12477752 0.4250 170 59 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.317+4304G>A - - Unknown g.215059762C>T - ABCA12_000046 rs4324319 0.3456 159 38 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.318-4684G>C - - Unknown g.215059348C>G - ABCA12_000045 rs1464686 0.6000 159 124 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.318-3880T>C r.(=) p.(=) Unknown g.215058544A>G - ABCA12_000044 rs6705760 0.3912 163 51 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.318-3799G>A - - Unknown g.215058463C>T - ABCA12_000050 rs16853280 0.9824 12 327 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.410-753G>A - - Unknown g.215053337C>T - ABCA12_000049 rs16853252 0.9676 18 319 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.410-480T>C r.(=) p.(=) Unknown g.215053064A>G - ABCA12_000048 rs17430358 0.2235 117 17 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.410-219T>G - - Unknown g.215052803A>C - ABCA12_000053 rs16853247 0.9574 13 318 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.508-369T>C - - Unknown g.215050180A>G - ABCA12_000052 rs13020712 0.7176 135 176 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.508-198C>A - - Unknown g.215050009G>T - ABCA12_000051 rs16853241 0.3941 140 64 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.553G>A - - Unknown g.215049766C>T - ABCA12_000055 rs34273324 0.9588 16 317 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.694-691T>A - - Unknown g.215046706A>T - ABCA12_000054 rs10180517 0.1132 51 13 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.872+740G>A r.(=) p.(=) Unknown g.215045097C>T - ABCA12_000060 rs6724130 0.9147 48 286 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.872+2336G>C - - Unknown g.215043501C>G - ABCA12_000059 rs1464679 0.0515 17 9 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.872+3123C>A - - Unknown g.215042714G>T - ABCA12_000061 rs13390609 0.0603 41 0 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.873-2011T>C - - Unknown g.215039076A>G - ABCA12_000062 rs16853209 0.9426 29 305 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.985+302T>C - - Unknown g.215036651A>G - ABCA12_000063 rs16853202 0.9544 15 316 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.985+539T>C - - Unknown g.215036414A>G - ABCA12_000064 rs16853200 0.7221 125 182 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.985+1591T>C r.(=) p.(=) Unknown g.215035362A>G - ABCA12_000025 rs1967603 0.2162 116 15 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.985+1824T>A - - Unknown g.215035129A>T - ABCA12_000024 rs12615195 0.2397 124 19 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.1062-1179T>C - - Unknown g.215028117A>G - ABCA12_000023 rs6720714 0.9015 57 277 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.1062-1073G>A - - Unknown g.215028011C>T - ABCA12_000022 rs16853160 0.0309 21 0 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.2125T>C - - Unknown g.215011646A>G - ABCA12_000021 rs10198064 0.2250 90 31 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.2332+226T>C - - Unknown g.215011213A>G - ABCA12_000020 rs7586427 0.2471 101 33 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.2592+892G>C - - Unknown g.215006835C>G - ABCA12_000019 rs13387055 0.0471 26 3 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.2592+1396G>A r.(=) p.(=) Unknown g.215006331C>T - ABCA12_000018 rs16853099 0.0294 12 4 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.5128+209G>A r.(=) p.(=) Unknown g.214978107C>T - ABCA12_000017 rs10198634 0.9426 25 307 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.5129-1129G>A - - Unknown g.214977166C>T - ABCA12_000016 rs1980846 0.5235 140 107 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.5129-911G>A r.(=) p.(=) Unknown g.214976948C>T - ABCA12_000015 rs16853027 0.1279 46 20 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.5129-67T>C r.(=) p.(=) Unknown g.214976104A>G - ABCA12_000014 rs7594021 0.4221 169 59 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.5381+96C>A - - Unknown g.214975689G>T - ABCA12_000013 rs17493319 0.4853 162 84 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.5401T>C - - Unknown g.214974845A>G - ABCA12_000012 rs16853022 0.9059 44 285 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.5690+322G>A r.(=) p.(=) Unknown g.214969951C>T - ABCA12_000011 rs3795857 0.4809 151 87 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.5778+108T>G - - Unknown g.214968612A>C - ABCA12_000010 rs12329271 0.9662 19 318 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.5779-833T>C - - Unknown g.214967786A>G - ABCA12_000009 rs16853012 0.8897 68 268 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.5779-769C>A r.(=) p.(=) Unknown g.214967722G>T - ABCA12_000008 rs7600521 0.4926 158 88 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.5779-65G>A r.(=) p.(=) Unknown g.214967018C>T - ABCA12_000007 rs16853009 0.8412 81 245 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.5885-802T>C r.(=) p.(=) Unknown g.214959880A>G - ABCA12_000006 rs4673923 0.4765 169 77 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.5885-179T>C - - Unknown g.214959257A>G - ABCA12_000005 rs10498029 0.3882 144 60 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.6233+467G>A - - Unknown g.214956196C>T - ABCA12_000004 rs1980847 0.4971 163 87 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.6307G>A r.(?) p.(Val2103Ile) Unknown g.214955288C>T - ABCA12_000003 rs10498027 0.4044 153 61 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.6393+424G>A - - Unknown g.214954778C>T - ABCA12_000002 rs10208383 0.9647 18 318 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.7542+1525G>A - - Unknown g.214935985C>T - ABCA12_000001 rs1409612 0.3309 135 45 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.7680+301T>C r.(=) p.(=) Unknown g.214933777A>G - ABCA12_000057 rs10208498 0.5691 158 114 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.7680+395T>C - - Unknown g.214933683A>G - ABCA12_000056 rs7578759 0.4779 146 89 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.7680+572G>A - - Unknown g.214933506C>T - ABCA12_000058 rs3886119 0.9485 33 305 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
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