Product Details

SNP ID

rs1534283

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.12:53299749 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GCAGGGAGCTGCTTATGGGACACCA[C/A]TTCCTGCGCGGCCTCTTAACGCTGC

Phenotype

MIM: 605378 MIM: 611366 MIM: 604143 MIM: 604899

Polymorphism

C/A, Transversion Substitution

Allele Nomenclature

Literature Links

AAAS PubMed Links

Additional Information

For this assay, SNP(s) [rs1534284] are located under a probe 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

There are no transcripts associated with this gene.

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	64	Missense Mutation	CAA,CAC	Q4H	NP_067653.3

Gene

ESPL1

Gene Name

extra spindle pole bodies like 1, separase

There are no transcripts associated with this gene.

Gene

PFDN5

Gene Name

prefoldin subunit 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002624.3	64	Intron			NP_002615.2
NM_145897.2	64	Intron			NP_665904.1

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