rs17497526
This is a intron variant variant in the COL13A1 gene.
▶Research that mentions this SNP (1)
▶Parkinson disease loci in the mid-western AmishAssociationN=798Davis MF et al.(2013)· Human Genetics
Genome-wide association and linkage analysis in an Amish founder population (798 genotyped individuals, 31 with Parkinson disease) identified multiple susceptibility loci, with the strongest associations at chromosome 5q31.3 (MEGF10, MQLS p=5.50×10⁻⁷), chromosome 11q21 (CCDC82, p=2.16×10⁻⁷), and chromosome 15q25.1 (TMC3, p=2.31×10⁻⁷), and significant linkage evidence on chromosomes 5 (multipoint HLOD=3.77), 6 (HLOD=4.02), and 10 (HLOD=4.35). The study suggests extensive locus heterogeneity in Parkinson disease susceptibility.
About COL13A1
This gene encodes the alpha chain of one of the nonfibrillar collagens. The function of this gene product is not known, however, it has been detected at low levels in all connective tissue-producing cells so it may serve a general function in connective tissues. Unlike most of the collagens, which are secreted into the extracellular matrix, collagen XIII contains a transmembrane domain and the protein has been localized to the plasma membrane. The transcripts for this gene undergo complex and extensive splicing involving at least eight exons. Like other collagens, collagen XIII is a trimer; it is not known whether this trimer is composed of one or more than one alpha chain isomer. A number of alternatively spliced transcript variants have been described, but the full length nature of some of them has not been determined. [provided by RefSeq, Jul 2008]
View all COL13A1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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