Product Details

SNP ID
rs113232300
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:98080890 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAACAGGCATAGCGATATCTGTGGC[C/T]GCAGTGGCTCTGGGGGCCAAGGTGT
Phenotype
MIM: 605202 MIM: 606556
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
NANS PubMed Links

Gene Details

Gene
NANS
Gene Name
N-acetylneuraminate synthase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_018946.3 317 Silent Mutation GCC,GCT A226A NP_061819.2
XM_011518787.2 317 Silent Mutation GCC,GCT A110A XP_011517089.1
XM_011518788.2 317 Silent Mutation GCC,GCT A101A XP_011517090.1
XM_017014811.1 317 Silent Mutation GCC,GCT A85A XP_016870300.1
Gene
TRIM14
Gene Name
tripartite motif containing 14
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_014788.3 317 Intron NP_055603.2
NM_033219.2 317 Intron NP_150088.1
XM_005252320.3 317 Intron XP_005252377.1
XM_006717338.1 317 Intron XP_006717401.1
XM_011519244.2 317 Intron XP_011517546.1
XM_017015352.1 317 Intron XP_016870841.1
XM_017015353.1 317 Intron XP_016870842.1
XM_017015354.1 317 Intron XP_016870843.1

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