Product Details

SNP ID

rs200662076

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:8324691 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGCAGCAGCCGCACGGTGTCCAGG[C/T]GCCCATACTCACTGGCACACATCAG

Phenotype

MIM: 614611 MIM: 602139 MIM: 603685

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

KANK3 PubMed Links

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	2288	Missense Mutation	CAC,CGC	H741R	NP_940873.2
XM_006722718.3	2288	Missense Mutation	CAC,CGC	H741R	XP_006722781.1
XM_011527884.2	2288	Missense Mutation	CAC,CGC	H741R	XP_011526186.1
XM_017026563.1	2288	Missense Mutation	CAC,CGC	H792R	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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