Product Details

SNP ID
rs79451216
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.7:56019730 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCACTGCCCCGCCCATGGCTCGCC[G/A]TGTCCTAGGAGGGAGACCCAACAGT
Phenotype
MIM: 172480
Polymorphism
G/A, Transition Substitution
Allele Nomenclature
Literature Links
PSPH PubMed Links

Gene Details

Gene
PSPH
Gene Name
phosphoserine phosphatase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004577.3 874 Missense Mutation CGG,TGG R49W NP_004568.2
XM_005271773.1 874 Missense Mutation CGG,TGG R49W XP_005271830.1
XM_005271774.1 874 Missense Mutation CGG,TGG R49W XP_005271831.1
XM_005271775.1 874 Missense Mutation CGG,TGG R49W XP_005271832.1
XM_005271776.1 874 Missense Mutation CGG,TGG R49W XP_005271833.1
XM_006715760.1 874 Missense Mutation CGG,TGG R49W XP_006715823.1
XM_006715761.1 874 Intron XP_006715824.1
XM_011515461.1 874 Missense Mutation CGG,TGG R49W XP_011513763.1
XM_017012466.1 874 Missense Mutation CGG,TGG R49W XP_016867955.1
XM_017012467.1 874 Missense Mutation CGG,TGG R49W XP_016867956.1
XM_017012468.1 874 Intron XP_016867957.1
XM_017012469.1 874 Intron XP_016867958.1

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