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COL1A2 gene
mutations seen in Ehlers-Danlos syndrome type VIIB, autosomal recessive; & osteogenesis imperfecta types II, III, & IV.
Related
collagen 1 alpha-2 (COL1A2)
General
unclassified gene
Properties
TEMPLATE-FOR: messenger RNA
TEMPLATE-FOR: collagen 1 alpha-2
LOCUS: human chromosome-7 Q22.1
MOTIF: transcription factor binding site
transcriptional start site
exon
intron
transcriptional termination site
Database Correlations
OMIM 120160
MORBIDMAP 120160