Product Details

SNP ID
rs200434143
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:14446967 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTCTGAGAGGGGCTCTGCACAGGA[A/C]TCGGTCTGCTCAAGCTCAGTGTCGG
Phenotype
MIM: 604212
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
PARN PubMed Links

Gene Details

Gene
PARN
Gene Name
poly(A)-specific ribonuclease
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001134477.2 1848 Missense Mutation GAG,GAT E534D NP_001127949.1
NM_001242992.1 1848 Missense Mutation GAG,GAT E549D NP_001229921.1
NM_002582.3 1848 Missense Mutation GAG,GAT E595D NP_002573.1
XM_011522510.2 1848 Intron XP_011520812.1
XM_011522511.2 1848 Intron XP_011520813.1
XM_011522513.2 1848 Intron XP_011520815.1
XM_011522514.1 1848 Intron XP_011520816.1
XM_017023258.1 1848 Intron XP_016878747.1
XM_017023259.1 1848 Intron XP_016878748.1
XM_017023260.1 1848 Intron XP_016878749.1

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