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See other DMD CNV Assays ›
Gene Symbol
DMD
Assay Reference Genome
Location

Chr.X:33059527 on build GRCh38
Cytoband
Xp21.1
Assay ID Hs05634703_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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Assay Details

Target Gene Details

Entrez Gene ID:

 1756

Gene Name:

 dystrophin

Gene Aliases:

 BMD, CMD3B, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272, MRX85

Location:

 Chr.X:31119219-33339609 on Build GRCh38

Assay Gene Location:

 Within Intron 3
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
DMD NM_000109.3 NP_000100.2
NM_004006.2 NP_003997.1
NM_004009.3 NP_004000.1
NM_004010.3 NP_004001.1
XM_006724468.2 XP_006724531.1
XM_006724469.3 XP_006724532.1
XM_006724470.3 XP_006724533.1
XM_006724473.2 XP_006724536.1
XM_006724474.3 XP_006724537.1
XM_006724475.2 XP_006724538.1
XM_011545467.1 XP_011543769.1
XM_011545468.2 XP_011543770.1
XM_011545469.1 XP_011543771.1
XM_017029328.1 XP_016884817.1
XM_017029329.1 XP_016884818.1
XM_017029330.1 XP_016884819.1
AK309142.1
BC009242.2 AAH09242.1
BC036103.1 AAH36103.1
M18533.1 AAA53189.1
M63074.1 AAA52314.1
S60972.1
S64152.1
X14298.1 CAA32479.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
dgv508n21 Chr.X:33047771 - 33302495 on Build GRCh38 Gain DMD
nsv522546 Chr.X:33057861 - 33095530 on Build GRCh38 Gain DMD

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More Information


Additional Information:

For this assay, SNP(s) [rs149898416] 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.

Set Membership:

 Intragenic Intronic Non-exonic DGV Variation

Panther Classification:

Molecular Function -

ubiquitin-protein ligase

Gene Ontology Categories:

Function(s) Process(es)


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