Product Details

SNP ID
rs1051207
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:131711384 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGTTCCGGGACGACGAGCGGGCCC[A/T]GGCTCAGGAACAGGGACAGCACCTC
Phenotype
MIM: 601945
Polymorphism
A/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_001261411.1 297 Missense Mutation CAG,CTG Q52L NP_001248340.1
NM_004592.3 297 Missense Mutation CAG,CTG Q52L NP_004583.2
XM_011538653.1 297 Missense Mutation CAG,CTG Q52L XP_011536955.1
XM_011538654.2 297 UTR 5 XP_011536956.1
XM_011538655.2 297 Missense Mutation CAG,CTG Q52L XP_011536957.1
XM_017019798.1 297 Missense Mutation CAG,CTG Q52L XP_016875287.1
XM_017019799.1 297 UTR 5 XP_016875288.1

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