Product Details

SNP ID
rs200536355
Assay Type
Functionally tested
NCBI dbSNP Submissions
1
Location
Chr.1:36137969 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTGGAGTGATGCCCAAGTACATCT[G/T]GAACGCCACCTGTCAGGGGACACAC
Phenotype
MIM: 610955
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
TRAPPC3 PubMed Links

Gene Details

Gene
TRAPPC3
Gene Name
trafficking protein particle complex 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001270894.1 188 Missense Mutation AAG,CAG K92Q NP_001257823.1
NM_001270895.1 188 Missense Mutation AAG,CAG K38Q NP_001257824.1
NM_001270896.1 188 Missense Mutation AAG,CAG K38Q NP_001257825.1
NM_001270897.1 188 Missense Mutation AAG,CAG K18Q NP_001257826.1
NM_014408.4 188 Missense Mutation AAG,CAG K84Q NP_055223.1

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