Product Details

Assay Reference Genome Location: Chr.1:236421971 on build GRCh38
Cytoband: 1q43
Species: Homo sapiens
Variation Type: Copy Number

Additional Information

For this assay, SNP(s) [rs113999596] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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 4

Gene Symbol	Transcript Accession	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 LGALS8-AS1 LGALS8 GPR137B NID1 ACTN2 HEATR1 MTR EDARADD ERO1B
esv2763410	Chr1:236334208 - 236735742 on Build GRCh38	Gain	LGALS8-AS1 LGALS8 ACTN2 HEATR1 EDARADD
esv28853	Chr1:236421051 - 236423213 on Build GRCh38	Gain	EDARADD
nsv549394	Chr1:235876577 - 236629706 on Build GRCh38	Gain	LGALS8-AS1 LGALS8 GPR137B NID1 HEATR1 EDARADD LYST ERO1B
nsv1012436	Chr1:235860657 - 236648100 on Build GRCh38	Loss	LGALS8-AS1 LGALS8 GPR137B NID1 HEATR1 EDARADD LYST ERO1B

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