Product Details

SNP ID
rs1051314
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:131714218 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGTATTTAGCCTTGCATACGGACTT[G/T]CTTGAGGAGGAGGCAAGGCAAGGTA
Phenotype
MIM: 601945
Polymorphism
G/T, Transversion 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_001261411.1 506 Missense Mutation TTG,TTT L122F NP_001248340.1
NM_004592.3 506 Missense Mutation TTG,TTT L122F NP_004583.2
XM_011538653.1 506 Missense Mutation TTG,TTT L122F XP_011536955.1
XM_011538654.2 506 Intron XP_011536956.1
XM_011538655.2 506 Missense Mutation TTG,TTT L122F XP_011536957.1
XM_017019798.1 506 Missense Mutation TTG,TTT L122F XP_016875287.1
XM_017019799.1 506 UTR 5 XP_016875288.1

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