Product Details

SNP ID

rs34451260

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.12:53307533 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGTGGGGCAGAACAGGTGGTGGCC[C/T]TGGGAGAGGGTCCCAAGGGGCAGAG

Phenotype

MIM: 605378 MIM: 611366 MIM: 604899

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

AAAS PubMed Links

Additional Information

For this assay, SNP(s) [rs112987708] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

AAAS

Gene Name

aladin WD repeat nucleoporin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001173466.1	1734	Missense Mutation	AGG,GGG	R500G	NP_001166937.1
NM_015665.5	1734	Missense Mutation	AGG,GGG	R533G	NP_056480.1
XM_011538778.1	1734	Missense Mutation	AGG,GGG	R547G	XP_011537080.1
XM_011538780.1	1734	Missense Mutation	AGG,GGG	R514G	XP_011537082.1

Gene

C12orf10

Gene Name

chromosome 12 open reading frame 10

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_021640.3	1734	Intron			NP_067653.3

Gene

PFDN5

Gene Name

prefoldin subunit 5

There are no transcripts associated with this gene.

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