Product Details

SNP ID
rs139409846
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.2:55640641 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTCTTTTTACCTTTCGTTGATCAA[A/G]TTGTGTGTTATGAAGCAGTACCGCA
Phenotype
MIM: 610316
Polymorphism
A/G, 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 2221 Missense Mutation CTT,TTT L712F NP_149100.2
XM_005264629.2 2221 Intron XP_005264686.1
XM_017005172.1 2221 Intron XP_016860661.1

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