Product Details

SNP ID
rs143041532
Assay Type
Functionally tested
NCBI dbSNP Submissions
3
Location
Chr.1:36137255 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCAATCCGCCTGATGAATCTCATC[C/T]GGATTTCTGTCACACCGTCTCCTTT
Phenotype
MIM: 610955
Polymorphism
C/T, Transition 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_001270894.1 429 Missense Mutation CAG,CGG Q172R NP_001257823.1
NM_001270895.1 429 Missense Mutation CAG,CGG Q118R NP_001257824.1
NM_001270896.1 429 Missense Mutation CAG,CGG Q118R NP_001257825.1
NM_001270897.1 429 Missense Mutation CAG,CGG Q98R NP_001257826.1
NM_014408.4 429 Missense Mutation CAG,CGG Q164R NP_055223.1

View Full Product Details