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Gene ENSMUSG00000055493 (Epm2a)
Chromosomal location
Chr 10: 11063202 - 11177520 (+)
Description
epilepsy, progressive myoclonic epilepsy, type 2 gene alpha Gene [Source:MGI Symbol;Acc:MGI:1341085]
RefSeq_dna
NM_010146 
RefSeq_peptide
NP_034276.2 
MGI
MGI:1341085 
Uniprot/SWISSPROT
Q9WUA5 
Human Ortholog
ENSG00000112425 (EPM2A)
Omim 254780 - MYOCLONIC EPILEPSY OF LAFORA  
UniTrap UNI29438
Vector Insertion
Chr 10: 11063567 - 11110608
Public Clones (sanger) CMHD-GT_413C12-3 (cmhd) CMHD-GT_413D1-3 (cmhd) CMHD-GT_419H4-3 (cmhd)
IST14633F11 (tigm) IST10221A4 (tigm) IST12056B2 (tigm)
Private Clones not available
Severity of mutation (?) Insertion after 30% of polypeptide chain
Proposed experimental design for vector insertion validation (?)

Show all transcripts and translations:

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