Product Details

SNP ID
rs114864077
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.13:38687727 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCCGCCTGAGTCCCAAGCGCTTCC[C/T]GTGCGACTTTGGCCCTGGCGAGGTG
Phenotype
MIM: 608945
Polymorphism
C/T, Transition 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_207361.5 692 Missense Mutation CCG,CTG P128L NP_997244.4
XM_017020554.1 692 Missense Mutation CCG,CTG P128L 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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