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Gene ENSMUSG00000000594 (Gm2a)
Chromosomal location
Chr 11: 54911595 - 54924400 (+)
Description
GM2 ganglioside activator protein Gene [Source:MGI (curated);Acc:Gm2a-001]
RefSeq_dna
NM_010299 
RefSeq_peptide
NP_034429.1 
UniGene
Mm.287807 
MGI
MGI:95762 
Uniprot/SWISSPROT
Q60648 
Uniprot/SPTREMBL
Q5F1Z8 
Human Ortholog
ENSG00000196743 (GM2A)
Omim 272750 - TAY-SACHS DISEASE, AB VARIANT  
UniTrap UNI24600
Vector Insertion
Chr 11: 54911747 - 54917088
Public Clones not available
Private Clones OST213638 (lexicon)
Severity of mutation (?) Insertion after 14% of polypeptide chain
Proposed experimental design for vector insertion validation (?)

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