Product Details

Assay Reference Genome
Location

Chr.11:95833653 on build GRCh38
Cytoband
11q21
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

Target Gene Details

Entrez Gene ID
8898
Gene Symbol
MTMR2
Gene Name
myotubularin related protein 2
Gene Aliases
CMT4B, CMT4B1
Location
Chr.11:95832880-95924207 on build GRCh38
Assay Gene Location
Within Exon 19
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
MTMR2 NM_001243571.1 18 4089 NP_001230500.1
NM_016156.5 15 3822 NP_057240.3
NM_201278.2 17 4016 NP_958435.1
NM_201281.2 16 3893 NP_958438.1
XM_005274374.2 16 3734 XP_005274431.1
XM_005274375.2 16 3848 XP_005274432.1
XM_006718934.2 17 3928 XP_006718997.1
XM_006718935.2 17 3858 XP_006718998.1
XM_006718936.3 16 3860 XP_006718999.1
XM_011543058.2 18 3950 XP_011541360.1
XM_011543059.2 18 3784 XP_011541361.1
XM_017018517.1 17 3955 XP_016874006.1
XM_017018518.1 16 3737 XP_016874007.1
AB028996.1 15 3910
BG252116.1 1 293
BX107577.1 1 400
DR762520.1 1 692

Target Copy Number Variation Details

DGV Version
Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
esv3579857 Chr11:95832676 - 95833871 on Build GRCh38 Loss CEP57 MTMR2
esv3627359 Chr11:95832628 - 95833966 on Build GRCh38 Loss CEP57 MTMR2
nsv832235 Chr11:95753612 - 95935071 on Build GRCh38 Gain FAM76B CEP57 MTMR2

View Full Product Details