Product Details

SNP ID

rs145402858

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.19:8324677 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGCCTGGCTGGGTGAGCAGCAGCC[A/G]CACGGTGTCCAGGCGCCCATACTCA

Phenotype

MIM: 614611 MIM: 602139 MIM: 603685

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

KANK3 PubMed Links

Additional Information

For this assay, SNP(s) [rs1019757] 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

KANK3

Gene Name

KN motif and ankyrin repeat domains 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_198471.2	2302	Missense Mutation	CGG,TGG	R746W	NP_940873.2
XM_006722718.3	2302	Missense Mutation	CGG,TGG	R746W	XP_006722781.1
XM_011527884.2	2302	Missense Mutation	CGG,TGG	R746W	XP_011526186.1
XM_017026563.1	2302	Missense Mutation	CGG,TGG	R797W	XP_016882052.1

Gene

NDUFA7

Gene Name

NADH:ubiquinone oxidoreductase subunit A7

There are no transcripts associated with this gene.

Gene

RPS28

Gene Name

ribosomal protein S28

There are no transcripts associated with this gene.

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