Product Details

SNP ID

rs200627906

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:76392476 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCATCCTATGCTCACCACCATCTTA[C/T]GGACATCTCCACTTCCAACACTGGC

Phenotype

MIM: 613010

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

RFK PubMed Links

Gene Details

Gene

RFK

Gene Name

riboflavin kinase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018339.5	533	Missense Mutation	CAT,CGT	H59R	NP_060809.3

Gene

RPSAP9

Gene Name

ribosomal protein SA pseudogene 9

There are no transcripts associated with this gene.

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