Product Details

SNP ID
rs142874304
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.18:46680388 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGATTCGAAGTCGTCCAGCACGTAC[C/T]TGACGCGGATGGACACGTCGGTGTT
Phenotype
MIM: 607162
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
ST8SIA5 PubMed Links

Gene Details

Gene
ST8SIA5
Gene Name
ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001307986.1 1554 Missense Mutation AAG,AGG K298R NP_001294915.1
NM_001307987.1 1554 Missense Mutation AAG,AGG K231R NP_001294916.1
NM_013305.5 1554 Missense Mutation AAG,AGG K262R NP_037437.2
XM_017025715.1 1554 Missense Mutation AAG,AGG K188R XP_016881204.1
XM_017025716.1 1554 Missense Mutation AAG,AGG K114R XP_016881205.1

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