Product Details

SNP ID
rs2279279
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:1170489 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
GCCCTGGGGCTCTGTCGCAGCCGCA[G/C]CAGTGTCACCCTGGCGATGGGAGGC
Phenotype
MIM: 605918
Polymorphism
G/C, Transversion substitution
Allele Nomenclature
Literature Links
SPON2 PubMed Links

Gene Details

Gene
SPON2
Gene Name
spondin 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001128325.2 1053 Missense Mutation CTG,GTG L242V NP_001121797.1
NM_001199021.1 1053 Missense Mutation CTG,GTG L242V NP_001185950.1
NM_012445.3 1053 Missense Mutation CTG,GTG L242V NP_036577.1

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