Product Details

SNP ID
rs148993921
Assay Type
Functionally tested
NCBI dbSNP Submissions
1
Location
Chr.1:153563856 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTAGTGACCAGCACAGCCAGCGCCT[C/G]CTCCAGAGAACTGCACATCATGGAT
Phenotype
MIM: 176993
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
S100A2 PubMed Links

Gene Details

Gene
S100A2
Gene Name
S100 calcium binding protein A2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_005978.3 357 Missense Mutation CAG,GAG Q7E NP_005969.1

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