Product Details

SNP ID
rs200395107
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.20:45363539 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCGTGTCCCTGCAGGGCATGGCGG[C/G]TCAGTTCCGCAGCTACGTGTGGGAC
Phenotype
MIM: 612979
Polymorphism
C/G, Transversion Substitution
Allele Nomenclature
Literature Links
SYS1 PubMed Links

Gene Details

Gene
SYS1
Gene Name
Sys1 golgi trafficking protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001099791.2 227 Missense Mutation GCT,GGT A3G NP_001093261.1
NM_001197129.1 227 Missense Mutation GCT,GGT A3G NP_001184058.1
NM_033542.3 227 Missense Mutation GCT,GGT A3G NP_291020.1
Gene
SYS1-DBNDD2
Gene Name
SYS1-DBNDD2 readthrough (NMD candidate)
There are no transcripts associated with this gene.

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