Product Details

SNP ID
rs200146689
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:67558855 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAAACCAGCCCCTCGCAGGATCTTC[C/T]AGGAAAGGTTAAAGATTACTGCTCT
Phenotype
MIM: 604298
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
STAP1 PubMed Links

Gene Details

Gene
STAP1
Gene Name
signal transducing adaptor family member 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001317769.1 159 Nonsense Mutation CAG,TAG Q16* NP_001304698.1
NM_012108.3 159 Nonsense Mutation CAG,TAG Q16* NP_036240.1
XM_017008018.1 159 Nonsense Mutation CAG,TAG Q16* XP_016863507.1

View Full Product Details