Product Details

SNP ID
rs139069654
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:73831053 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATGCCTTCATCCTCTATAACAAGT[A/T]TATCACGTAAGACACCTACAGTTTC
Phenotype
MIM: 606247
Polymorphism
A/T, Transversion 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_006463.4 297 Missense Mutation TAT,TTT Y66F NP_006454.1
NM_201647.2 297 Missense Mutation TAT,TTT Y66F NP_964010.1
NM_213622.2 297 Missense Mutation TAT,TTT Y66F NP_998787.1
XM_005264088.3 297 Missense Mutation TAT,TTT Y66F XP_005264145.1
XM_011532483.2 297 Missense Mutation TAT,TTT Y66F XP_011530785.1
XM_011532484.2 297 Missense Mutation TAT,TTT Y66F XP_011530786.1
XM_011532485.2 297 Missense Mutation TAT,TTT Y66F XP_011530787.1
XM_017003175.1 297 Missense Mutation TAT,TTT Y66F XP_016858664.1
XM_017003176.1 297 Missense Mutation TAT,TTT Y66F XP_016858665.1
XM_017003177.1 297 UTR 5 XP_016858666.1
XM_017003178.1 297 UTR 5 XP_016858667.1
XM_017003179.1 297 UTR 5 XP_016858668.1
XM_017003180.1 297 UTR 5 XP_016858669.1
XM_017003181.1 297 UTR 5 XP_016858670.1

View Full Product Details