Product Details

SNP ID: rs2231621
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.20:45375205 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GATCCACTGGTCGGCTACATCCAGC[C/T]GCTTCATGTGCCCCATGGGAGTTCT
Phenotype: MIM: 612979
Polymorphism: C/T, 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	942	UTR 3			NP_001093261.1
NM_001197129.1	942	Intron			NP_001184058.1
NM_033542.3	942	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	942	Missense Mutation	CAG,CGG	Q201R	NP_055292.1
XM_011528790.2	942	Missense Mutation	CAG,CGG	Q185R	XP_011527092.1

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