Product Details

SNP ID
rs79321413
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:56019706 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGCTCTGTGAGAGCAGCTTTGAAAG[A/G]CACTGCCCCGCCCATGGCTCGCCGT
Phenotype
MIM: 172480
Polymorphism
A/G, 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_004577.3 898 Missense Mutation CCT,TCT P57S NP_004568.2
XM_005271773.1 898 Missense Mutation CCT,TCT P57S XP_005271830.1
XM_005271774.1 898 Missense Mutation CCT,TCT P57S XP_005271831.1
XM_005271775.1 898 Missense Mutation CCT,TCT P57S XP_005271832.1
XM_005271776.1 898 Missense Mutation CCT,TCT P57S XP_005271833.1
XM_006715760.1 898 Missense Mutation CCT,TCT P57S XP_006715823.1
XM_006715761.1 898 Intron XP_006715824.1
XM_011515461.1 898 Missense Mutation CCT,TCT P57S XP_011513763.1
XM_017012466.1 898 Missense Mutation CCT,TCT P57S XP_016867955.1
XM_017012467.1 898 Missense Mutation CCT,TCT P57S XP_016867956.1
XM_017012468.1 898 Intron XP_016867957.1
XM_017012469.1 898 Intron XP_016867958.1

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