Product Details

SNP ID
rs199596721
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:105457850 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTTGATACTGGTATCCATTTTTAG[C/T]ACTTCTCGAATGGCCATGGTGGCGT
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 1952 Silent Mutation GTA,GTG V648V NP_001305092.1
NM_001318164.1 1952 Silent Mutation GTA,GTG V642V NP_001305093.1
NM_019042.4 1952 Silent Mutation GTA,GTG V642V NP_061915.2
XM_005250462.3 1952 Silent Mutation GTA,GTG V648V XP_005250519.1
XM_011516336.2 1952 Silent Mutation GTA,GTG V614V XP_011514638.1
XM_017012367.1 1952 Silent Mutation GTA,GTG V648V XP_016867856.1
XM_017012368.1 1952 Silent Mutation GTA,GTG V339V XP_016867857.1

View Full Product Details