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Gene ENSMUSG00000022483 (Col2a1)
Chromosomal location
Chr 15: 97805402 - 97835076 (-)
Description
collagen, type II, alpha 1 Gene [Source:MGI (curated);Acc:Col2a1-001]
RefSeq_peptide
NP_001106987.2 NP_112440.2 
UniGene
Mm.2423 Mm.470559 
MGI
MGI:88452 
Uniprot/SWISSPROT
P28481 
Human Ortholog
ENSG00000139219 (COL2A1)
Omim 108300 - STICKLER SYNDROME, TYPE I  120140 - COLLAGEN, TYPE II, ALPHA-1  132450 - EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS  150600 - LEGG-CALVE-PERTHES DISEASE  151210 - PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE  156550 - KNIEST DYSPLASIA  183900 - SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA  200610 - ACHONDROGENESIS, TYPE II  271700 - SPONDYLOPERIPHERAL DYSPLASIA  604864 - OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA  608805 - AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY  609508 - STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR  
UniTrap UNI13452
Vector Insertion
Chr 15: 97830830 - 97831038
Public Clones CMHD-GT_317C02-3 (cmhd)
Private Clones not available
Severity of mutation (?) Insertion after 2% of polypeptide chain
Proposed experimental design for vector insertion validation (?)

Show all transcripts and translations:

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