Product Details

SNP ID

rs147175848

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:38942647 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCTGACCCTCACACTGGAGTGGGT[C/G]ACAAGGGCGCCATAGTGCCCCACCC

Phenotype

MIM: 609094 MIM: 603021

Polymorphism

C/G, Transversion 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	930	Silent Mutation	GTC,GTG	V266V	NP_079183.4
NM_148169.2	930	Silent Mutation	GTC,GTG	V275V	NP_680474.1

Gene

MRPS12

Gene Name

mitochondrial ribosomal protein S12

There are no transcripts associated with this gene.

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