Product Details

SNP ID
rs146226566
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:75598593 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGGCACAGCTACACCAAGGACATCT[C/G]ACACCATGTAGGGGCGCAGCCAGCC
Phenotype
MIM: 607902
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
SNUPN PubMed Links

Gene Details

Gene
SNUPN
Gene Name
snurportin 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001042581.1 993 Nonsense Mutation TCA,TGA S283* NP_001036046.1
NM_001042588.1 993 Nonsense Mutation TCA,TGA S283* NP_001036053.1
NM_005701.3 993 Nonsense Mutation TCA,TGA S283* NP_005692.1

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