Product Details

SNP ID

rs200522682

Assay Type

Functionally tested

NCBI dbSNP Submissions

13

Location

Chr.1:18481319 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCCTGGTCACGGGGGCCACTTCCA[C/G]AGACAGGAAGCCCCAGAGAAAAGGC

Phenotype

Polymorphism

C/G, Transversion 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	390	Missense Mutation	ACA,AGA	T113R	NP_689588.2

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