Product Details

SNP ID

rs200528447

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:202884526 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCTCCATGTGGCCAGAGAGGGTCA[C/T]TATGGGAGTCTAGAAAGGAAGAACC

Phenotype

MIM: 616620

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

WDR12 PubMed Links

Gene Details

Gene

WDR12

Gene Name

WD repeat domain 12

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018256.3	1378	Missense Mutation	ATG,GTG	M251V	NP_060726.3
XM_011511469.2	1378	Missense Mutation	ATG,GTG	M113V	XP_011509771.1

View Full Product Details