Product Details

SNP ID
rs190694566
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:41907817 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAAGAGAAAGAATGTTCAAATCCAT[C/T]AAATCTTCTAGAACTTTACACACAG
Phenotype
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
C5orf51 PubMed Links

Gene Details

Gene
C5orf51
Gene Name
chromosome 5 open reading frame 51
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_175921.5 335 Missense Mutation TCA,TTA S61L NP_787117.3
XM_005248289.4 335 Missense Mutation TCA,TTA S61L XP_005248346.1
XM_011514032.2 335 UTR 5 XP_011512334.1

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