Product Details

SNP ID
rs200629440
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:131714138 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCTGAGTATTCCACGTGGAACAGA[C/G]ATTATCAGCTGTCTGAAGAGGAGGC
Phenotype
MIM: 601945
Polymorphism
C/G, 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_001261411.1 428 Missense Mutation CAT,GAT H96D NP_001248340.1
NM_004592.3 428 Missense Mutation CAT,GAT H96D NP_004583.2
XM_011538653.1 428 Missense Mutation CAT,GAT H96D XP_011536955.1
XM_011538654.2 428 UTR 5 XP_011536956.1
XM_011538655.2 428 Missense Mutation CAT,GAT H96D XP_011536957.1
XM_017019798.1 428 Missense Mutation CAT,GAT H96D XP_016875287.1
XM_017019799.1 428 UTR 5 XP_016875288.1

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