Product Details

SNP ID

rs148110342

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.15:90876318 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACGAAGCGGTCCCTGTCGCCTCAC[C/T]GCCCGCGGCACAGCCGGCTGCAGAG

Phenotype

MIM: 190030 MIM: 136950

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

FES PubMed Links

Additional Information

For this assay, SNP(s) [rs73489557] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

FES

Gene Name

FES proto-oncogene, tyrosine kinase

There are no transcripts associated with this gene.

Gene

FURIN

Gene Name

furin, paired basic amino acid cleaving enzyme

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001289823.1	467	Missense Mutation	CGC,TGC	R81C	NP_001276752.1
NM_001289824.1	467	Missense Mutation	CGC,TGC	R81C	NP_001276753.1
NM_002569.3	467	Missense Mutation	CGC,TGC	R81C	NP_002560.1

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