Gene: COL28A1

Alternate names for this Gene: COL28

Gene Summary: COL28A1 belongs to a class of collagens containing von Willebrand factor (VWF; MIM 613160) type A (VWFA) domains (Veit et al., 2006 [PubMed 16330543]).[supplied by OMIM, Nov 2010]. ##Evidence-Data-START## Transcript exon combination :: AJ890451.1, BC136892.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1966682, SAMEA1968189 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000399429.8/ ENSP00000382356.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END##

Gene is located in Chromosome: 7

Location in Chromosome : 7p21.3

Description of this Gene: collagen type XXVIII alpha 1 chain

Type of Gene: protein-coding

rs17168526 in COL28A1 gene and Cytokine Measurement PMID 22610502 2012 Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.

rs6962939 in COL28A1 gene and Frontotemporal dementia PMID 29724592 2018 Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.