Assay Details
Target Gene Details
Entrez Gene ID: | 8898 |
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 Transcript 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 | Chr.11:95832676 - 95833871 on Build GRCh38 | Loss | CEP57 MTMR2 |
esv3627359 | Chr.11:95832628 - 95833966 on Build GRCh38 | Loss | CEP57 MTMR2 |
nsv832235 | Chr.11:95753612 - 95935071 on Build GRCh38 | Gain | FAM76B CEP57 MTMR2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |