Product Details

SNP ID

rs4850

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.16:21965441 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

GAAAATTTGCATGCAGCAGCTTACC[A/G]GAATGCCTTGGCTAATCCCTTGTAT

Phenotype

MIM: 191329

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PDZD9 PubMed Links

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	908	Intron			NP_776167.2
XM_006721029.3	908	Intron			XP_006721092.1
XM_011545785.2	908	Intron			XP_011544087.1
XM_017023109.1	908	Intron			XP_016878598.1
XM_017023110.1	908	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	908	Missense Mutation	CAG,CGG	Q183R	NP_003357.2

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