Product Details

SNP ID
rs145409553
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:1277047 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCATCGAGGCAGAGGCTCTATGGCT[C/T]CTCCCCCATCTGCAGCAGGGAGTTG
Phenotype
MIM: 606277
Polymorphism
C/T, Transition 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_001318512.1 981 Missense Mutation AAG,GAG K223E NP_001305441.1
NM_001318514.1 981 Missense Mutation AAG,GAG K204E NP_001305443.1
NM_001318515.1 981 UTR 3 NP_001305444.1
NM_001318516.1 981 Missense Mutation AAG,GAG K212E NP_001305445.1
NM_019009.3 981 Missense Mutation AAG,GAG K273E NP_061882.2
XM_017017931.1 981 Missense Mutation AAG,GAG K147E XP_016873420.1

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