Product Details

SNP ID
rs139888322
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:43730623 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAACCTACATGTCTGTAGTCCATCT[C/T]TGCTAAGTATGTCATGGTACCACTG
Phenotype
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PUS7L PubMed Links

Gene Details

Gene
PUS7L
Gene Name
pseudouridylate synthase 7 like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001098614.2 1963 Missense Mutation NP_001092084.1
NM_001098615.1 1963 Missense Mutation NP_001092085.1
NM_001271826.1 1963 Missense Mutation NP_001258755.1
NM_031292.4 1963 Missense Mutation NP_112582.3
XM_006719623.2 1963 Missense Mutation XP_006719686.1
XM_011538790.2 1963 Missense Mutation XP_011537092.1
XM_011538791.2 1963 Missense Mutation XP_011537093.1
XM_017019996.1 1963 Missense Mutation XP_016875485.1
XM_017019997.1 1963 Missense Mutation XP_016875486.1
XM_017019998.1 1963 Missense Mutation XP_016875487.1

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