Product Details

SNP ID

rs117057052

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:11166602 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATGTAGGGCTCTCGTCATCTGACA[C/T]TGGGGCAAACTGAAACAGAGAAGCA

Phenotype

MIM: 614610

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

KANK2 PubMed Links

Gene Details

Gene

KANK2

Gene Name

KN motif and ankyrin repeat domains 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001136191.2	2873	Missense Mutation	ATG,GTG	M838V	NP_001129663.1
NM_015493.6	2873	Missense Mutation	ATG,GTG	M846V	NP_056308.3

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