Product Details

SNP ID

rs199983697

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:30713612 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAACTGTGTTCTCCAGGATGGCCAG[A/C]CGCTTACTCACAGCTTCCAGTGGAC

Phenotype

MIM: 115437

Polymorphism

A/C, Transversion 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	1495	Silent Mutation	CGG,CGT	R487R	NP_002370.1

Gene

MATN1-AS1

Gene Name

MATN1 antisense RNA 1

There are no transcripts associated with this gene.

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