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 18 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MTMR2 | NM_001243571.1 | 17 | 2203 | NP_001230500.1 |
NM_016156.5 | 14 | 1936 | NP_057240.3 | |
NM_201278.2 | 16 | 2130 | NP_958435.1 | |
NM_201281.2 | 15 | 2007 | NP_958438.1 | |
XM_005274374.2 | 15 | 1848 | XP_005274431.1 | |
XM_005274375.2 | 15 | 1962 | XP_005274432.1 | |
XM_006718934.2 | 16 | 2042 | XP_006718997.1 | |
XM_006718935.2 | 16 | 1972 | XP_006718998.1 | |
XM_006718936.3 | 15 | 1974 | XP_006718999.1 | |
XM_011543058.2 | 17 | 2064 | XP_011541360.1 | |
XM_011543059.2 | 17 | 1898 | XP_011541361.1 | |
XM_017018517.1 | 16 | 2069 | XP_016874006.1 | |
XM_017018518.1 | 15 | 1851 | XP_016874007.1 | |
AB028996.1 | 14 | 2024 | ||
AK027038.1 | 6 | 857 | ||
AK291277.1 | 14 | 1710 | ||
AK302940.1 | 15 | 1733 | ||
BC052990.1 | 14 | 1821 | AAH52990.1 | |
BX647997.1 | 15 | 1901 | ||
U58033.1 | 5 | 534 | AAC79118.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv832235 | Chr.11:95753612 - 95935071 on Build GRCh38 | Gain | CEP57 MTMR2 FAM76B |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |