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Gene: COL9A1 (collagen type IX alpha 1 chain) Homo sapiens
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Symbol: COL9A1
Name: collagen type IX alpha 1 chain
Description: Predicted to have extracellular matrix structural constituent. Predicted to be involved in extracellular matrix organization. Localizes to the collagen type IX trimer. Implicated in Stickler syndrome; multiple epiphyseal dysplasia 6; and osteochondrodysplasia.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: alpha-1(IX) collagen chain; cartilage-specific short collagen; collagen alpha-1(IX) chain; collagen IX, alpha-1 polypeptide; collagen type IX alpha 1; collagen, type IX, alpha 1; DJ149L1.1.2; EDM6; FLJ40263; MED; STL4
Orthologs:
Mus musculus (house mouse) : Col9a1 (collagen, type IX, alpha 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Col9a1 (collagen type IX alpha 1 chain)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Col9a1 (collagen type IX alpha 1 chain)
Pan paniscus (bonobo/pygmy chimpanzee) : COL9A1 (collagen type IX alpha 1 chain)
Canis lupus familiaris (dog) : COL9A1 (collagen type IX alpha 1 chain)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Col9a1 (collagen type IX alpha 1 chain)
Sus scrofa (pig) : COL9A1 (collagen type IX alpha 1 chain)
more info ...
Allele / Splice: See ClinVar data
Is Marker For: QTLs:   OSTEAR16_H  
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl670,215,061 - 70,303,083 (-)Ensembl
GRCh38670,215,061 - 70,303,084 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37670,925,743 - 71,012,786 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36670,982,529 - 71,069,494 (-)NCBINCBI36hg18NCBI36
Build 34670,982,947 - 71,049,621NCBI
Celera671,314,154 - 71,401,187 (-)NCBI
Cytogenetic Map6q13NCBI
HuRef668,124,097 - 68,211,118 (-)NCBIHuRef
CHM1_1671,092,075 - 71,179,110 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on COL9A1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1298223
Created: 2004-05-07
Species: Homo sapiens
Last Modified: 2020-01-07
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.