Product Details

SNP ID
rs2177487
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:48534291 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
ACATATGGTATTTTATTCGAAAACT[C/G]TTTGAGGTAAATATTACTATTATTT
Phenotype
MIM: 605357
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
STON1 PubMed Links

Gene Details

Gene
STON1
Gene Name
stonin 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001198595.1 Intron NP_001185524.1
NM_006873.3 Intron NP_006864.2
Gene
STON1-GTF2A1L
Gene Name
STON1-GTF2A1L readthrough
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001198593.1 Intron NP_001185522.1
NM_001198594.1 Intron NP_001185523.1
NM_172311.2 Intron NP_758515.1

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