Product Details

SNP ID

rs2743418

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:45363684 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAGCCCCTCGCTGGACCAGATGTT[C/T]GACGCCGAGGTAGGGTCCCCGGACT

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	372	Silent Mutation	TTC,TTT	F51F	NP_001093261.1
NM_001197129.1	372	Silent Mutation	TTC,TTT	F51F	NP_001184058.1
NM_033542.3	372	Silent Mutation	TTC,TTT	F51F	NP_291020.1

Gene

SYS1-DBNDD2

Gene Name

SYS1-DBNDD2 readthrough (NMD candidate)

There are no transcripts associated with this gene.

View Full Product Details