Product Details

SNP ID
rs143492177
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:105457794 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AATCTGTGGACAAGGTACTGCTCAG[C/T]GAAGCCAGGTTGTATTCAGCTGCGT
Phenotype
MIM: 616261
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PUS7 PubMed Links

Gene Details

Gene
PUS7
Gene Name
pseudouridylate synthase 7 (putative)
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001318163.1 2008 Missense Mutation CAC,CGC H667R NP_001305092.1
NM_001318164.1 2008 Missense Mutation CAC,CGC H661R NP_001305093.1
NM_019042.4 2008 Missense Mutation CAC,CGC H661R NP_061915.2
XM_005250462.3 2008 Missense Mutation CAC,CGC H667R XP_005250519.1
XM_011516336.2 2008 Missense Mutation CAC,CGC H633R XP_011514638.1
XM_017012367.1 2008 Missense Mutation CAC,CGC H667R XP_016867856.1
XM_017012368.1 2008 Missense Mutation CAC,CGC H358R XP_016867857.1

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