Product Details

SNP ID

rs34852828

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.9:113408878 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGCCTTTCTTCGTCTTCATCATTG[G/T]CCTCATCCCTGCTCTTGTCTTGCTC

Phenotype

MIM: 125270 MIM: 607267

Polymorphism

G/T, Transversion Substitution

Allele Nomenclature

Literature Links

ALAD PubMed Links

Additional Information

For this assay, SNP(s) [rs3827674] 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

ALAD

Gene Name

aminolevulinate dehydratase

There are no transcripts associated with this gene.

Gene

C9orf43

Gene Name

chromosome 9 open reading frame 43

There are no transcripts associated with this gene.

Gene

POLE3

Gene Name

DNA polymerase epsilon 3, accessory subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001278255.1	625	Missense Mutation	GAC,GCC	D126A	NP_001265184.1
NM_017443.4	625	Missense Mutation	GAC,GCC	D126A	NP_059139.3

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