Product Details

SNP ID
rs200834779
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:81270600 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AACATAGTAAGCATGGCTAAAAGGA[A/G]TAAGAGGGGGAGGGTAGTGGGGTGA
Phenotype
MIM: 608467
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
STON2 PubMed Links

Gene Details

Gene
STON2
Gene Name
stonin 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001256430.1 2992 Intron NP_001243359.1
NM_033104.3 2992 Missense Mutation CTC,TTC L895F NP_149095.2
XM_006720279.1 2992 Intron XP_006720342.1
XM_011537240.1 2992 Intron XP_011535542.1
XM_011537241.1 2992 Missense Mutation CTC,TTC L952F XP_011535543.1
XM_011537242.1 2992 Intron XP_011535544.1

View Full Product Details