Product Details

SNP ID
rs2231619
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:45375292 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
CTCGGTGAGTGGTTGCCTCCCCTGG[A/G]CTCCAGGGTTCAAGCTATCATCCCT
Phenotype
MIM: 612979
Polymorphism
A/G, Transition 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_001099791.2 855 UTR 3 NP_001093261.1
NM_001197129.1 855 Intron NP_001184058.1
NM_033542.3 855 Intron NP_291020.1
Gene
SYS1-DBNDD2
Gene Name
SYS1-DBNDD2 readthrough (NMD candidate)
There are no transcripts associated with this gene.

Gene
TP53TG5
Gene Name
TP53 target 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_014477.2 855 Missense Mutation GCC,GTC A172V NP_055292.1
XM_011528790.2 855 Missense Mutation GCC,GTC A156V XP_011527092.1

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