Product Details

SNP ID

rs1048032

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:196554275 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGATCAGCTACTAATATATTTTGG[G/T]GTCCCTTTATTTTTGTACCCAAGAG

Phenotype

MIM: 615110

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

WDR53 PubMed Links

Gene Details

Gene

WDR53

Gene Name

WD repeat domain 53

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_182627.1	1484	Missense Mutation	CAC,CCC	H338P	NP_872433.1

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