Full data view for gene ABCA8

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

29 entries on 1 page. Showing entries 1 - 29.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Position     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
./. - c.-5-5558T>C - r.(=) p.(=) Unknown g.66943738A>G dbSNP ABCA8_000027 rs4147951 0.55405 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.97-158T>C - - - Unknown g.66937261A>G dbSNP ABCA8_000026 rs4147961 0.50507 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.302-545G>A - - - Unknown g.66933801C>T dbSNP ABCA8_000025 rs10512521 0.96622 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.466+89T>C - - - Unknown g.66933003A>G dbSNP ABCA8_000024 rs4147967 0.77703 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.571-33G>A - r.(=) p.(=) Unknown g.66928688C>T dbSNP ABCA8_000023 rs16973452 0.04223 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.792G>A - r.(=) p.(=) Unknown g.66928434C>T dbSNP ABCA8_000022 rs3826430 0.02872 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.797+1009G>A - r.(=) p.(=) Unknown g.66927420C>T dbSNP ABCA8_000021 rs11656365 0.48311 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.798-67T>C - - - Unknown g.66925910A>G dbSNP ABCA8_000020 rs4147977 0.47973 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.939+28G>A - - - Unknown g.66925674C>T dbSNP ABCA8_000019 rs4147978 0.97804 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.1443-388T>C - - - Unknown g.66918829A>G dbSNP ABCA8_000018 rs4147983 0.95270 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.2278+970C>A - - - Unknown g.66901215G>T dbSNP ABCA8_000017 rs1373068 0.58446 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.2279-1155C>A - r.(=) p.(=) Unknown g.66900795G>T dbSNP ABCA8_000029 rs4147996 0.01689 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.2279-70G>C - r.(=) p.(=) Unknown g.66899710C>G dbSNP ABCA8_000028 rs3744494 0.40541 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.2477+152G>A - - - Unknown g.66899290C>T dbSNP ABCA8_000016 rs4147997 0.19932 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.2477+181T>C - r.(=) p.(=) Unknown g.66899261A>G dbSNP ABCA8_000015 rs7211979 0.82601 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.2644+1314T>C - r.(=) p.(=) Unknown g.66897540A>G dbSNP ABCA8_000014 rs8068204 0.82770 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.2645-874T>C - - - Unknown g.66892028A>G dbSNP ABCA8_000013 rs8074769 0.57264 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.3025-1879G>A - - - Unknown g.66885526C>T dbSNP ABCA8_000012 rs4147314 0.42736 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.3025-1725G>A - r.(=) p.(=) Unknown g.66885372C>T dbSNP ABCA8_000011 rs4147313 0.41216 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.3025-1232G>A - - - Unknown g.66884879C>T dbSNP ABCA8_000010 rs10852765 0.41385 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.3709-257T>A - - - Unknown g.66878378A>T dbSNP ABCA8_000009 rs1443261 0.17230 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.3827-312G>C - r.(=) p.(=) Unknown g.66877664C>G dbSNP ABCA8_000008 rs4968967 0.17736 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.4122G>C - - - Unknown g.66872802C>G dbSNP ABCA8_000007 rs1481 0.23480 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.4251-201G>C - - - Unknown g.66872075C>G dbSNP ABCA8_000006 rs8081061 0.99324 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.4511+1171T>C - - - Unknown g.66870230A>G dbSNP ABCA8_000005 rs8078836 0.01858 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.4511+2080T>C - - - Unknown g.66869321A>G dbSNP ABCA8_000004 rs6501834 0.57770 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.4591+258T>C - - - Unknown g.66865583A>G dbSNP ABCA8_000003 rs3744491 0.00676 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.4591+345G>A - r.(=) p.(=) Unknown g.66865496C>T dbSNP ABCA8_000002 rs9896422 0.32770 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.4591+375G>C - - - Unknown g.66865466C>G dbSNP ABCA8_000001 rs3826429 0.57432 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
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