Product Details

SNP ID

rs181832842

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:87518150 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAGGACCGGCCCCTGCCCATCAGA[A/G]AGCCGTTCAGAATTTGCAGCAACAT

Phenotype

MIM: 300348

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

KLHL4 PubMed Links

Gene Details

Gene

KLHL4

Gene Name

kelch like family member 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_019117.4	439	Missense Mutation	AAA,AGA	K86R	NP_061990.2
NM_057162.2	439	Missense Mutation	AAA,AGA	K86R	NP_476503.1

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