Product Details

SNP ID

rs200698651

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:24719762 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAAGTACTTACTGGCAAATTATAAT[A/G]CATGTGGCATAGACAATATGTTAAA

Phenotype

MIM: 610314

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PIWIL3 PubMed Links

Gene Details

Gene

PIWIL3

Gene Name

piwi like RNA-mediated gene silencing 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001008496.3	2939	Missense Mutation	CAT,TAT	H840Y	NP_001008496.2
NM_001255975.1	2939	Missense Mutation	CAT,TAT	H831Y	NP_001242904.1

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