Product Details

SNP ID
rs200147245
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:49601970 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCCACGGACAGGTTACTGCAGAGG[A/G]CATCCTCACACATGACCTTTAAGCG
Phenotype
MIM: 602650
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
SPOP PubMed Links

Gene Details

Gene
SPOP
Gene Name
speckle type BTB/POZ protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001007226.1 1346 Missense Mutation GCC,GTC A292V NP_001007227.1
NM_001007227.1 1346 Missense Mutation GCC,GTC A292V NP_001007228.1
NM_001007228.1 1346 Missense Mutation GCC,GTC A292V NP_001007229.1
NM_001007229.1 1346 Missense Mutation GCC,GTC A292V NP_001007230.1
NM_001007230.1 1346 Missense Mutation GCC,GTC A292V NP_001007231.1
NM_003563.3 1346 Missense Mutation GCC,GTC A292V NP_003554.1
XM_005257723.4 1346 Missense Mutation GCC,GTC A292V XP_005257780.1
XM_005257724.4 1346 Missense Mutation GCC,GTC A292V XP_005257781.1
XM_017025204.1 1346 Missense Mutation GCC,GTC A292V XP_016880693.1

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