Product Details

SNP ID
rs11261022
Assay Type
Functionally tested
NCBI dbSNP Submissions
47
Location
Chr.1:18481459 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAACCCTGACCCTCCCCATTTCCCC[A/C]GCTTGGGCAGCGAACCGAAGAGCTC
Phenotype
Polymorphism
A/C, 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_152375.2 530 Missense Mutation AGC,CGC S160R NP_689588.2

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