Product Details

SNP ID

rs74996043

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:87518077 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGCCACTCTCGGGACAGAAACGGA[C/T]TGAAGAAAAGCAACAGTCCTGTCCA

Phenotype

MIM: 300348

Polymorphism

C/T, 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	366	Silent Mutation	CTG,TTG	L62L	NP_061990.2
NM_057162.2	366	Silent Mutation	CTG,TTG	L62L	NP_476503.1

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