Product Details

SNP ID
rs188813224
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:30358324 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCAGGCCCAGCACTGGCTCTGCGGA[C/T]GGGGGGCGGCGGGGACGGGGCCCCT
Phenotype
MIM: 604470 MIM: 613620
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CD2BP2 PubMed Links

Gene Details

Gene
CD2BP2
Gene Name
CD2 cytoplasmic tail binding protein 2
There are no transcripts associated with this gene.

Gene
TBC1D10B
Gene Name
TBC1 domain family member 10B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_015527.3 1932 Missense Mutation ATC,GTC I683V NP_056342.3
XM_011545789.1 1932 Missense Mutation ATC,GTC I578V XP_011544091.1
XM_011545790.2 1932 UTR 3 XP_011544092.1

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