Product Details

SNP ID
rs191572062
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:17320900 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTTTAGGCGACTTCACATTTGCTA[A/C]ATTGCAGTTTGAGGATTCCTTTCAT
Phenotype
MIM: 610139
Polymorphism
A/C, 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 1167 Missense Mutation TGT,TTT C392F NP_001004470.1
XM_017016174.1 1167 Missense Mutation TGT,TTT C362F XP_016871663.1
XM_017016175.1 1167 Intron XP_016871664.1

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