Product Details

SNP ID

rs150887497

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.16:21962817 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCACAGCACCAGAATTTCGTCGTT[C/G]GGAAGTAGCTGACCTTCAGCCTCAG

Phenotype

MIM: 191329

Polymorphism

C/G, Transversion Substitution

Allele Nomenclature

Literature Links

PDZD9 PubMed Links

Additional Information

For this assay, SNP(s) [rs2228473] 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

PDZD9

Gene Name

PDZ domain containing 9

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_173806.3	806	Intron			NP_776167.2
XM_006721029.3	806	Intron			XP_006721092.1
XM_011545785.2	806	Intron			XP_011544087.1
XM_017023109.1	806	Intron			XP_016878598.1
XM_017023110.1	806	Intron			XP_016878599.1

Gene

UQCRC2

Gene Name

ubiquinol-cytochrome c reductase core protein II

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003366.3	806	Missense Mutation	TCG,TGG	S149W	NP_003357.2

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