Product Details

SNP ID

rs145193617

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:2807850 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AATGGCACCTCGATTTACACTAGCC[C/T]AGGACTTCAGGTTCTTCATACCAAC

Phenotype

MIM: 609960

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PUM3 PubMed Links

Gene Details

Gene

PUM3

Gene Name

pumilio RNA binding family member 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014878.4	1874	Nonsense Mutation	TAG,TGG	*593W	NP_055693.4

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