Product Details

SNP ID
rs145850419
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:73830956 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGAGGTGAATGAAGACATTCCACCC[C/T]GTCGGTACTTCCGCTCTGGAGTTGA
Phenotype
MIM: 606247
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
STAMBP PubMed Links

Gene Details

Gene
STAMBP
Gene Name
STAM binding protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_006463.4 200 Missense Mutation CGT,TGT R34C NP_006454.1
NM_201647.2 200 Missense Mutation CGT,TGT R34C NP_964010.1
NM_213622.2 200 Missense Mutation CGT,TGT R34C NP_998787.1
XM_005264088.3 200 Missense Mutation CGT,TGT R34C XP_005264145.1
XM_011532483.2 200 Missense Mutation CGT,TGT R34C XP_011530785.1
XM_011532484.2 200 Missense Mutation CGT,TGT R34C XP_011530786.1
XM_011532485.2 200 Missense Mutation CGT,TGT R34C XP_011530787.1
XM_017003175.1 200 Missense Mutation CGT,TGT R34C XP_016858664.1
XM_017003176.1 200 Missense Mutation CGT,TGT R34C XP_016858665.1
XM_017003177.1 200 UTR 5 XP_016858666.1
XM_017003178.1 200 UTR 5 XP_016858667.1
XM_017003179.1 200 UTR 5 XP_016858668.1
XM_017003180.1 200 UTR 5 XP_016858669.1
XM_017003181.1 200 UTR 5 XP_016858670.1

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