Product Details

SNP ID

rs78975662

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:143577712 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTCCAAGCACTGCACCCATAGGCA[A/T]CTGAAGAAGTAATTCAAACTTCTCT

Phenotype

MIM: 608946

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

FREM3 PubMed Links

Gene Details

Gene

FREM3

Gene Name

FRAS1 related extracellular matrix 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001168235.1	6319	Missense Mutation	ATG,TTG	M2107L	NP_001161707.1

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