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Gene ENSMUSG00000071657 (Bscl2)
Chromosomal location
Chr 19: 8915027 - 8923156 (+)
Description
Bernardinelli-Seip congenital lipodystrophy 2 homolog (human) Gene [Source:MGI Symbol;Acc:MGI:1298392]
RefSeq_dna
NM_008144 
RefSeq_peptide
NP_001129536.1 NP_032170.2 
MGI
MGI:1298392 
Uniprot/SWISSPROT
Q9Z2E9 
Human Ortholog
ENSG00000168000 (BSCL2)
Omim 269700 - LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2  270685 - SPASTIC PARAPLEGIA 17  600794 - NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V  
UniTrap UNI13617
Vector Insertion
Chr 19: 8915059 - 8915597
Public Clones CMHD-GT_252C8-3 (cmhd)
Private Clones OST307386 (lexicon) OST296670 (lexicon) OST234966 (lexicon)
Severity of mutation (?) Insertion after 0% of polypeptide chain
Proposed experimental design for vector insertion validation (?)

UniTrap UNI37111
Vector Insertion
Chr 19: 8921054 - 8921895
Public Clones CMHD-GT_509G1-3 (cmhd)
Private Clones not available
Severity of mutation (?) Insertion after 58% of polypeptide chain
Proposed experimental design for vector insertion validation (?)

UniTrap UNI34895
Vector Insertion
Chr 19: 8922224 - 8922403
Public Clones IST14596C1 (tigm)
Private Clones not available
Severity of mutation (?) Insertion after 76% of polypeptide chain
Proposed experimental design for vector insertion validation (?)

UniTrap UNI29435
Vector Insertion
Chr 19: 8922652 - 8922953
Public Clones CMHD-GT_419H5-3 (cmhd)
Private Clones not available
Severity of mutation (?) Insertion after 90% of polypeptide chain
Proposed experimental design for vector insertion validation (?)

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