Full data view for gene ABCE1

Information The variants shown are described using the NM_002940.2 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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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.-28+1629C>T r.(=) p.(=) Unknown g.145100048C>T - ABCE1_000001 rs1378315 0.6618 153 148 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.189+591G>T - - Unknown g.145106281G>T - ABCE1_000002 rs17725600 0.0809 49 3 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
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