Product Details

SNP ID

rs113214124

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:18481543 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGTGCCGGTGGTGAGCCTTCTCCA[C/T]GGCAGGACAGTAAACCCCGTGAGCA

Phenotype

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

KLHDC7A PubMed Links

Gene Details

Gene

KLHDC7A

Gene Name

kelch domain containing 7A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_152375.2	614	Missense Mutation	CGG,TGG	R188W	NP_689588.2

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