Product Details

SNP ID
rs199558501
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:214614976 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTCACAAGTGAATTTCCAGGAAGGA[A/C]AACTGAATTCAGGCAAAAAACAAAT
Phenotype
MIM: 600236
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
CENPF PubMed Links

Gene Details

Gene
CENPF
Gene Name
centromere protein F
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_016343.3 468 Missense Mutation AAA,CAA K103Q NP_057427.3
XM_011509082.2 468 Missense Mutation AAA,CAA K103Q XP_011507384.1
XM_017000086.1 468 Missense Mutation AAA,CAA K103Q XP_016855575.1

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