Product Details

SNP ID

rs199507852

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:169735174 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATAATTTTCCATTGTCACCGAGCC[A/G]TTTTAGCTGCTTGCAGCAATTATTT

Phenotype

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

KLHL23 PubMed Links

Gene Details

Gene

KLHL23

Gene Name

kelch like family member 23

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_144711.5	404	Missense Mutation	ATT,GTT	I54V	NP_653312.2

Gene

PHOSPHO2-KLHL23

Gene Name

PHOSPHO2-KLHL23 readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001199290.1	404	Missense Mutation	ATT,GTT	I54V	NP_001186219.1

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