Full data view for gene DHTKD1

Information The variants shown are described using the NM_018706.6 transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
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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     
./. - c.717+441A>G r.(=) p.(=) Unknown g.12088170A>G - DHTKD1_000001 rs11257529 0.1206 65 8 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.1671+502A>G r.(=) p.(=) Unknown g.12098498A>G - DHTKD1_000008 rs2062987 0.2868 128 33 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.1757-181C>T - - Unknown g.12100861C>T - DHTKD1_000002 rs1701488 0.9721 15 322 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.1820C>G - - Unknown g.12101105C>G - DHTKD1_000003 rs2062988 0.3059 139 34 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.1937A>G - - Unknown g.12106286A>G - DHTKD1_000004 rs1615510 0.9662 23 316 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.2078A>G - - Unknown g.12107939A>G - DHTKD1_000005 rs1722462 0.1647 72 20 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.2155-67C>T r.(=) p.(=) Unknown g.12112833C>T - DHTKD1_000006 rs1701470 0.3676 147 51 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.2522A>G - - Unknown g.12118868A>G - DHTKD1_000007 rs12769375 0.9868 9 330 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
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