Product Details

SNP ID
rs200761543
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:1170431 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCGCTGTCTACAATCTCATTGTCC[C/T]TGCTGGGCAGGACTGGGGCGGGAGG
Phenotype
MIM: 605918
Polymorphism
C/T, Transition 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 1111 Missense Mutation AAG,AGG K261R NP_001121797.1
NM_001199021.1 1111 Missense Mutation AAG,AGG K261R NP_001185950.1
NM_012445.3 1111 Missense Mutation AAG,AGG K261R NP_036577.1

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