Product Details

Assay Reference Genome
Location

Chr.1:236412514 on build GRCh38
Cytoband
1q43
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

Target Gene Details

Entrez Gene ID
128178
Gene Symbol
EDARADD
Gene Name
EDAR associated death domain
Gene Aliases
ECTD11A, ECTD11B, ED3, EDA3
Location
Chr.1:236394380-236484708 on build GRCh38
Assay Gene Location
Within Intron 3
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
EDARADD NM_080738.3 NP_542776.1
NM_145861.2 NP_665860.2
AK096339.1
AK290862.1
AK291930.1
AK314634.1
AY028913.1 AAK40287.1
AY028914.1 AAK40288.1
AY071862.1 AAL60590.1
BC128082.1

Target Copy Number Variation Details

DGV Version
Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv1005877 Chr1:235912335 - 237038508 on Build GRCh38 Gain LGALS8 NID1 MT1HL1 EDARADD LGALS8-AS1 MTR ERO1B GPR137B HEATR1 ACTN2
esv2763410 Chr1:236334208 - 236735742 on Build GRCh38 Gain LGALS8 EDARADD LGALS8-AS1 HEATR1 ACTN2
nsv549394 Chr1:235876577 - 236629706 on Build GRCh38 Gain LGALS8 NID1 EDARADD LGALS8-AS1 ERO1B LYST GPR137B HEATR1
nsv1012436 Chr1:235860657 - 236648100 on Build GRCh38 Loss LGALS8 NID1 EDARADD LGALS8-AS1 ERO1B LYST GPR137B HEATR1

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