Product Details

SNP ID
rs75406859
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:1277055 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCAGAGGCTCTATGGCTCCTCCCCC[A/C]TCTGCAGCAGGGAGTTGATGGCGGC
Phenotype
MIM: 606277
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
TOLLIP PubMed Links

Gene Details

Gene
TOLLIP
Gene Name
toll interacting protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001318512.1 973 Missense Mutation AGG,ATG R220M NP_001305441.1
NM_001318514.1 973 Missense Mutation AGG,ATG R201M NP_001305443.1
NM_001318515.1 973 UTR 3 NP_001305444.1
NM_001318516.1 973 Missense Mutation AGG,ATG R209M NP_001305445.1
NM_019009.3 973 Missense Mutation AGG,ATG R270M NP_061882.2
XM_017017931.1 973 Missense Mutation AGG,ATG R144M XP_016873420.1

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