Product Details

Assay Reference Genome
Location

Chr.1:236401407 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 2
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 MT1HL1 NID1 ACTN2 LGALS8-AS1 LGALS8 HEATR1 EDARADD MTR ERO1B GPR137B
esv2763410 Chr1:236334208 - 236735742 on Build GRCh38 Gain ACTN2 LGALS8-AS1 LGALS8 HEATR1 EDARADD
nsv549394 Chr1:235876577 - 236629706 on Build GRCh38 Gain NID1 LYST LGALS8-AS1 LGALS8 HEATR1 EDARADD ERO1B GPR137B
nsv1012436 Chr1:235860657 - 236648100 on Build GRCh38 Loss NID1 LYST LGALS8-AS1 LGALS8 HEATR1 EDARADD ERO1B GPR137B

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