Product Details

Assay Reference Genome
Location

Chr.14:23414010 on build GRCh38
Cytoband
14q11.2
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

Target Gene Details

Entrez Gene ID
4625
Gene Symbol
MYH7
Gene Name
myosin, heavy chain 7, cardiac muscle, beta
Gene Aliases
CMD1S, CMH1, MPD1, MYHCB, SPMD, SPMM
Location
Chr.14:23412738-23435686 on build GRCh38
Assay Gene Location
Overlaps Intron 38 - Exon 38
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
MYH7 NM_000257.3 NP_000248.2
XM_017021340.1 XP_016876829.1
AB209708.1 BAD92945.1
AJ710171.1
AY518538.1 AAT44534.1
BC112171.1 AAI12172.1
BC112173.1 AAI12174.1
DQ248310.1 ABB55265.1
EF560725.1
EU747717.1
M17712.1 AAA36343.1
M21665.1 AAA36345.1
M58018.1 AAA62830.1
X03741.1 CAA27381.1
X05631.1 CAA29119.1
X06976.1 CAA30039.1
X51591.1 CAA35940.1

Target Copy Number Variation Details

DGV Version
Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv470623 Chr14:23391499 - 23418656 on Build GRCh38 Gain MIR208B MHRT MYH7 MYH6
esv2748480 Chr14:23390535 - 23420438 on Build GRCh38 Deletion MIR208B MHRT MYH7 MYH6
nsv456166 Chr14:23392602 - 23418656 on Build GRCh38 Gain MIR208B MHRT MYH7 MYH6
esv3584149 Chr14:23395407 - 23427942 on Build GRCh38 Gain MIR208B MHRT MYH7 MYH6

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