Product Details

SNP ID
rs200555358
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:131719468 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTTTATGCAGAAAAAAATGAGGCC[A/G]AAAATTTAGAGGAAAATGAAGAGCC
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_001261411.1 630 Missense Mutation AAA,GAA K179E NP_001248340.1
NM_004592.3 630 Missense Mutation AAA,GAA K179E NP_004583.2
XM_011538653.1 630 Missense Mutation AAA,GAA K179E XP_011536955.1
XM_011538654.2 630 Missense Mutation AAA,GAA K53E XP_011536956.1
XM_011538655.2 630 Missense Mutation AAA,GAA K179E XP_011536957.1
XM_017019798.1 630 Missense Mutation AAA,GAA K179E XP_016875287.1
XM_017019799.1 630 UTR 5 XP_016875288.1

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