Product Details

SNP ID
rs144355224
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:98080938 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTTGGAACGTCACATAACTTTGGA[C/G]AAGACCTGGAAGGGGAGTGACCACT
Phenotype
MIM: 605202 MIM: 606556
Polymorphism
C/G, Transversion 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_018946.3 365 Missense Mutation GAC,GAG D242E NP_061819.2
XM_011518787.2 365 Missense Mutation GAC,GAG D126E XP_011517089.1
XM_011518788.2 365 Missense Mutation GAC,GAG D117E XP_011517090.1
XM_017014811.1 365 Missense Mutation GAC,GAG D101E 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_014788.3 365 Intron NP_055603.2
NM_033219.2 365 Intron NP_150088.1
XM_005252320.3 365 Intron XP_005252377.1
XM_006717338.1 365 Intron XP_006717401.1
XM_011519244.2 365 Intron XP_011517546.1
XM_017015352.1 365 Intron XP_016870841.1
XM_017015353.1 365 Intron XP_016870842.1
XM_017015354.1 365 Intron XP_016870843.1

View Full Product Details