Product Details

SNP ID

rs16944971

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:90875868 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GCTGTGCGCATCCCTGGAGGCCCAG[C/T]GGTGGCCAACAGTGTGGCACGGAAG

Phenotype

MIM: 190030 MIM: 136950

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

FES PubMed Links

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	354	Missense Mutation	GCG,GTG	A43V	NP_001276752.1
NM_001289824.1	354	Missense Mutation	GCG,GTG	A43V	NP_001276753.1
NM_002569.3	354	Missense Mutation	GCG,GTG	A43V	NP_002560.1

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