Product Details

SNP ID
rs8017121
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:49710331 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
GGGAGAAAATCACCGACTTTGAAGG[A/G]CAACCACCTACACCACGTGATAAAC
Phenotype
MIM: 611281
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
KLHDC1 PubMed Links

Gene Details

Gene
KLHDC1
Gene Name
kelch domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_172193.2 444 Silent Mutation GGA,GGG G118G NP_751943.1
XM_011536422.2 444 Silent Mutation GGA,GGG G118G XP_011534724.1

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