Full data view for gene ABCA17P

Information The variants shown are described using the NR_003574.1 transcript reference sequence.

15 entries on 1 page. Showing entries 1 - 15.
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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     
./. - n.453-966C>G - - Unknown g.2360150C>G - ABCA17P_000001 rs12325349 0.9397 37 300 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - n.537+865C>T - - Unknown g.2362065C>T - ABCA17P_000002 rs4128278 0.9500 28 308 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - n.546C>T - - Unknown g.2365689C>T - ABCA17P_000003 rs8057666 0.0779 41 6 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - n.665+120A>G r.(?) - Unknown g.2365928A>G - ABCA17P_000004 rs8043640 0.0574 33 3 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - n.1359+311C>G - - Unknown g.2379892C>G - ABCA17P_000005 rs4627351 0.6485 141 149 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - n.1359+593C>T r.(?) - Unknown g.2380174C>T - ABCA17P_000006 rs6600193 0.3721 123 65 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - n.1360-1675A>G r.(?) - Unknown g.2384429A>G - ABCA17P_000007 rs6600197 0.2868 87 54 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - n.1513-2072A>T - - Unknown g.2393768A>T - ABCA17P_000008 rs6600200 0.2794 132 29 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - n.1513-1899C>G - - Unknown g.2393941C>G - ABCA17P_000009 rs6600201 0.6706 144 155 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - n.1513-479C>T - - Unknown g.2395361C>T - ABCA17P_000010 rs6600202 0.2368 119 21 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - n.1513-362G>T - - Unknown g.2395478G>T - ABCA17P_000011 rs6600203 0.2809 137 27 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - n.1611+81C>T - - Unknown g.2396019C>T - ABCA17P_000012 rs4497687 0.6868 143 161 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - n.2280C>T r.(?) - Unknown g.2410375C>T - ABCA17P_000013 rs4076228 0.6912 123 173 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - n.2408C>T - - Unknown g.2410674C>T - ABCA17P_000014 rs10163266 0.1000 32 18 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - n.2559+5163G>T - - Unknown g.2415988G>T - ABCA17P_000015 rs12443553 0.0765 32 10 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
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