Product Details

SNP ID

rs187750584

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:55636365 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTCGAGAAAGCCTCATTCTTCCAT[C/T]GGCTGGGTCACGTCCAAAGTATTTC

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	2311	Missense Mutation	AAT,GAT	N742D	NP_149100.2
XM_005264629.2	2311	Intron			XP_005264686.1
XM_017005172.1	2311	Intron			XP_016860661.1

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