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Gene ENSMUSG00000031214 (Ophn1)
Chromosomal location
Chr X: 95752854 - 96086324 (-)
Description
oligophrenin 1 Gene [Source:MGI (curated);Acc:Ophn1-001]
RefSeq_dna
NM_052976 
RefSeq_peptide
NP_443208.1 
UniGene
Mm.254336 
MGI
MGI:2151070 
Uniprot/SWISSPROT
Q99J31 
Uniprot/SPTREMBL
B1AV64 Q8C914 B1AXS4 B1AV63 Q8BQX4 Q8C4C7 
Human Ortholog
ENSG00000079482 (OPHN1)
Omim 300486 - MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE  
UniTrap UNI33883
Vector Insertion
Chr X: 95927703 - 95959116
Public Clones (sanger) IST14541D8 (tigm)
Private Clones not available
Severity of mutation (?) Insertion after 16% of polypeptide chain
Proposed experimental design for vector insertion validation (?)

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