Product Details

SNP ID
rs199548273
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:144095400 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCAGTACGAGTCGCGGTGTTGGTTC[A/C]CCAGCCACTCCCACTTGGTGGTGTC
Phenotype
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
SF3B5 PubMed Links

Gene Details

Gene
SF3B5
Gene Name
splicing factor 3b subunit 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_031287.2 218 Missense Mutation GGG,GTG G33V NP_112577.1

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