Product Details

SNP ID

rs199879494

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:143577652 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAAGCACTCTGCTTACAGTCCGTGA[C/T]GGTGTCCTCGATGAAAATGGTAGTT

Phenotype

MIM: 608946

Polymorphism

C/T, Transition 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	6379	Missense Mutation	ATC,GTC	I2127V	NP_001161707.1

View Full Product Details