Product Details

SNP ID: rs147874701
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.20:45373915 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GTGCCATATGGAAGATCTTATTTGT[A/G]GACTCGTGAATTTCGCCACCCATTC
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	1205	Intron			NP_001093261.1
NM_001197129.1	1205	Intron			NP_001184058.1
NM_033542.3	1205	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	1205	Missense Mutation	CAC,TAC	H289Y	NP_055292.1
XM_011528790.2	1205	Missense Mutation	CAC,TAC	H273Y	XP_011527092.1

View Full Product Details