Product Details

SNP ID
rs76164149
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:18481093 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTGGTGACTGTGGCCTACAGGCTG[G/T]ACAAGTCGAGGCCTGCCCCAGCCCA
Phenotype
Polymorphism
G/T, 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_152375.2 164 Missense Mutation GAC,TAC D38Y NP_689588.2

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