Product Details

SNP ID

rs199563252

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:38688256 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGCTTTGAAACGCGAGCACTTCCA[C/G]GTTCTGGTGAGGATCCGAGGAGGGG

Phenotype

MIM: 608945

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

FREM2 PubMed Links

Gene Details

Gene

FREM2

Gene Name

FRAS1 related extracellular matrix protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_207361.5	1221	Missense Mutation	CAC,CAG	H304Q	NP_997244.4
XM_017020554.1	1221	Missense Mutation	CAC,CAG	H304Q	XP_016876043.1

Gene

LINC00437

Gene Name

long intergenic non-protein coding RNA 437

There are no transcripts associated with this gene.

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