Product Details

SNP ID

rs1130650

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:20472467 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

ACTACGGTGAAATCCCCAACTTTCC[C/T]CGAAGTACAGGTACTGGCAAGGGAA

Phenotype

MIM: 164050

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PNP PubMed Links

Gene Details

Gene

PNP

Gene Name

purine nucleoside phosphorylase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000270.3	317	Silent Mutation	CCC,CCT	P57P	NP_000261.2

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