Product Details

SNP ID
rs139429077
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:131714878 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCAGAGGATGGGAGCTACAATGCC[A/G]TGGGGTTCACTTACGGTAGCGACTA
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_001261411.1 540 Missense Mutation ATG,GTG M149V NP_001248340.1
NM_004592.3 540 Missense Mutation ATG,GTG M149V NP_004583.2
XM_011538653.1 540 Missense Mutation ATG,GTG M149V XP_011536955.1
XM_011538654.2 540 Missense Mutation ATG,GTG M23V XP_011536956.1
XM_011538655.2 540 Missense Mutation ATG,GTG M149V XP_011536957.1
XM_017019798.1 540 Missense Mutation ATG,GTG M149V XP_016875287.1
XM_017019799.1 540 UTR 5 XP_016875288.1

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