Product Details

SNP ID
rs201915155
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:55636388 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCGGCTGGGTCACGTCCAAAGTAT[C/T]TCACCTGTGTTAAAGAAACAGATCT
Phenotype
MIM: 610316
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PNPT1 PubMed Links

Gene Details

Gene
PNPT1
Gene Name
polyribonucleotide nucleotidyltransferase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_033109.4 2288 Missense Mutation AAA,AGA K734R NP_149100.2
XM_005264629.2 2288 Intron XP_005264686.1
XM_017005172.1 2288 Intron XP_016860661.1

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