Product Details

SNP ID
rs2231627
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:45374010 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
TCTGGCTCTCGTCCAGGTCACATCA[A/G]CCTGCCAGCAGAAACCTCGGTGTTA
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 1110 Intron NP_001093261.1
NM_001197129.1 1110 Intron NP_001184058.1
NM_033542.3 1110 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 1110 Missense Mutation GCT,GTT A257V NP_055292.1
XM_011528790.2 1110 Missense Mutation GCT,GTT A241V XP_011527092.1

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