Product Details

SNP ID
rs139050481
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:131719464 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTCTTTTTATGCAGAAAAAAATGA[A/G]GCCGAAAATTTAGAGGAAAATGAAG
Phenotype
MIM: 601945
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
SFSWAP PubMed Links

Gene Details

Gene
SFSWAP
Gene Name
splicing factor SWAP homolog
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001261411.1 626 Silent Mutation GAA,GAG E177E NP_001248340.1
NM_004592.3 626 Silent Mutation GAA,GAG E177E NP_004583.2
XM_011538653.1 626 Silent Mutation GAA,GAG E177E XP_011536955.1
XM_011538654.2 626 Silent Mutation GAA,GAG E51E XP_011536956.1
XM_011538655.2 626 Silent Mutation GAA,GAG E177E XP_011536957.1
XM_017019798.1 626 Silent Mutation GAA,GAG E177E XP_016875287.1
XM_017019799.1 626 UTR 5 XP_016875288.1

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