Product Details

SNP ID

rs111921761

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:38937248 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAGTTAGCCTGAGCATGTACAAGA[C/T]GGAACAAATTCAAAAAGCTTCTGTC

Phenotype

MIM: 609498

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

FBXO47 PubMed Links

Gene Details

Gene

FBXO47

Gene Name

F-box protein 47

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001008777.2	1388	Missense Mutation	CAT,CGT	H429R	NP_001008777.2
XM_011524865.2	1388	Missense Mutation	CAT,CGT	H403R	XP_011523167.1
XM_011524866.2	1388	Missense Mutation	CAT,CGT	H372R	XP_011523168.1
XM_011524867.2	1388	Intron			XP_011523169.1

Gene

LINC00672

Gene Name

long intergenic non-protein coding RNA 672

There are no transcripts associated with this gene.

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