Product Details

SNP ID
rs146522134
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:73831042 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCAACATTGAACATGCCTTCATCCT[C/G]TATAACAAGTATATCACGTAAGACA
Phenotype
MIM: 606247
Polymorphism
C/G, 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_006463.4 286 Silent Mutation CTC,CTG L62L NP_006454.1
NM_201647.2 286 Silent Mutation CTC,CTG L62L NP_964010.1
NM_213622.2 286 Silent Mutation CTC,CTG L62L NP_998787.1
XM_005264088.3 286 Silent Mutation CTC,CTG L62L XP_005264145.1
XM_011532483.2 286 Silent Mutation CTC,CTG L62L XP_011530785.1
XM_011532484.2 286 Silent Mutation CTC,CTG L62L XP_011530786.1
XM_011532485.2 286 Silent Mutation CTC,CTG L62L XP_011530787.1
XM_017003175.1 286 Silent Mutation CTC,CTG L62L XP_016858664.1
XM_017003176.1 286 Silent Mutation CTC,CTG L62L XP_016858665.1
XM_017003177.1 286 UTR 5 XP_016858666.1
XM_017003178.1 286 UTR 5 XP_016858667.1
XM_017003179.1 286 UTR 5 XP_016858668.1
XM_017003180.1 286 UTR 5 XP_016858669.1
XM_017003181.1 286 UTR 5 XP_016858670.1

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