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Gene ENSMUSG00000030592 (Ryr1)
Chromosomal location
Chr 7: 29788363 - 29910170 (-)
Description
ryanodine receptor 1, skeletal muscle Gene [Source:MGI Symbol;Acc:MGI:99659]
RefSeq_dna
NM_009109 
RefSeq_peptide
NP_033135.2 
UniGene
Mm.414917 Mm.439745 
MGI
MGI:99659 
Uniprot/SPTREMBL
P70272 Q60834 Q61779 Q62173 Q62196 Q62235 Q7TNG1 Q80UQ5 Q80X16 Q99JF2 Q99JF3 Q99JF9 
Human Ortholog
ENSG00000196218 (RYR1)
Omim 117000 - CENTRAL CORE DISEASE OF MUSCLE  145600 - MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1  255320 - MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA  
UniTrap UNI22058
Vector Insertion
Chr 7: 29903900 - 29909983
Public Clones not available
Private Clones OST310090 (lexicon) OST249832 (lexicon) OST87747 (lexicon)
Severity of mutation (?) Insertion after 0% of polypeptide chain
Proposed experimental design for vector insertion validation (?)

UniTrap UNI38620
Vector Insertion
Chr 7: 29825823 - 29828949
Public Clones (sanger)
Private Clones not available
Severity of mutation (?) Insertion after 78% of polypeptide chain
Proposed experimental design for vector insertion validation (?)

UniTrap UNI26245
Vector Insertion
Chr 7: 29809364 - 29820998
Public Clones not available
Private Clones OST128699 (lexicon)
Severity of mutation (?) Insertion after 81% of polypeptide chain
Proposed experimental design for vector insertion validation (?)

UniTrap UNI36571
Vector Insertion
Chr 7: 29797214 - 29798888
Public Clones IST14609H3 (tigm)
Private Clones not available
Severity of mutation (?) Insertion after 93% of polypeptide chain
Proposed experimental design for vector insertion validation (?)

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