Product Details

SNP ID
rs201222280
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:56019640 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGTGTGGGGGTTGCTCTGCTATGA[A/G]TCTCTGCACCTGCTCCCTGGAGGGC
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_004577.3 964 Missense Mutation CTC,TTC L79F NP_004568.2
XM_005271773.1 964 Missense Mutation CTC,TTC L79F XP_005271830.1
XM_005271774.1 964 Missense Mutation CTC,TTC L79F XP_005271831.1
XM_005271775.1 964 Missense Mutation CTC,TTC L79F XP_005271832.1
XM_005271776.1 964 Missense Mutation CTC,TTC L79F XP_005271833.1
XM_006715760.1 964 Missense Mutation CTC,TTC L79F XP_006715823.1
XM_006715761.1 964 Intron XP_006715824.1
XM_011515461.1 964 Missense Mutation CTC,TTC L79F XP_011513763.1
XM_017012466.1 964 Missense Mutation CTC,TTC L79F XP_016867955.1
XM_017012467.1 964 Missense Mutation CTC,TTC L79F XP_016867956.1
XM_017012468.1 964 Intron XP_016867957.1
XM_017012469.1 964 Intron XP_016867958.1

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