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COL2A1 gene
mutations seen in Stickler syndrome, achondrogenesis type II, Kniest dysplasia, spondyloepiphyseal dysplasia, chondrogenesis imperfecta.
Related
collagen 2 alpha-1; contains: chondrocalcin (COL2A1)
General
unclassified gene
Properties
TEMPLATE-FOR: messenger RNA
TEMPLATE-FOR: collagen 2 alpha-1
LOCUS: human chromosome-12 Q13.11-13.2
MOTIF: transcription factor binding site
transcriptional start site
exon
intron
transcriptional termination site
Database Correlations
OMIM 120140