Product Details

SNP ID

rs200158223

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:38945034 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTGAGGCTGAGAACTTGACCACTT[C/T]CTTTTCATACACATCCAGAAGGCGG

Phenotype

MIM: 609094

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

FBXO17 PubMed Links

Gene Details

Gene

FBXO17

Gene Name

F-box protein 17

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024907.6	760	Missense Mutation	AAA,GAA	K210E	NP_079183.4
NM_148169.2	760	Missense Mutation	AAA,GAA	K219E	NP_680474.1

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