Product Details

SNP ID
rs200853425
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:17321033 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGACAGGTATGTCTTCTACAGTTT[G/T]AGAGAAGGGCCAGAATCCATACAGC
Phenotype
MIM: 610139
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
ST8SIA6 PubMed Links

Gene Details

Gene
ST8SIA6
Gene Name
ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001004470.1 1034 Missense Mutation AAA,CAA K348Q NP_001004470.1
XM_017016174.1 1034 Missense Mutation AAA,CAA K318Q XP_016871663.1
XM_017016175.1 1034 Intron XP_016871664.1

View Full Product Details