Product Details

SNP ID
rs185241612
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:227981721 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTATACGGCAGACTGCCTTATTAT[A/C]CCAGTTCCAAGAGCCAGTCAAAGAG
Phenotype
MIM: 611646
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
SPHKAP PubMed Links

Gene Details

Gene
SPHKAP
Gene Name
SPHK1 interactor, AKAP domain containing
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001142644.1 5697 Missense Mutation GGA,GTA G1700V NP_001136116.1
NM_030623.3 5697 Missense Mutation GGA,GTA G1671V NP_085126.2
XM_005246870.4 5697 Missense Mutation GGA,GTA G1683V XP_005246927.1
XM_006712777.3 5697 Missense Mutation GGA,GTA G1725V XP_006712840.1
XM_006712778.3 5697 Missense Mutation GGA,GTA G1696V XP_006712841.1
XM_011511925.2 5697 Missense Mutation GGA,GTA G1715V XP_011510227.1

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