Product Details

SNP ID
rs149688576
Assay Type
Functionally tested
NCBI dbSNP Submissions
4
Location
Chr.1:30714308 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGCTTGGAATTTCACCAGGGACTC[A/G]CAGGCACACGGGTCTTCCTCTGCAG
Phenotype
MIM: 115437
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
MATN1 PubMed Links

Gene Details

Gene
MATN1
Gene Name
matrilin 1, cartilage matrix protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002379.3 1414 Silent Mutation TGC,TGT C460C NP_002370.1
Gene
MATN1-AS1
Gene Name
MATN1 antisense RNA 1
There are no transcripts associated with this gene.

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