Product Details

SNP ID
rs3210952
Assay Type
Functionally tested
NCBI dbSNP Submissions
37
Location
Chr.1:205337462 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCAGACCCTGGTTGACACCTCCCAC[A/G]GCGAGGAGGCAGTTCTTGACGACTA
Phenotype
MIM: 614503
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
KLHDC8A PubMed Links

Gene Details

Gene
KLHDC8A
Gene Name
kelch domain containing 8A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001271863.1 1534 Silent Mutation GCC,GCT A330A NP_001258792.1
NM_001271864.1 1534 Silent Mutation GCC,GCT A330A NP_001258793.1
NM_001271865.1 1534 Silent Mutation GCC,GCT A330A NP_001258794.1
NM_018203.2 1534 Silent Mutation GCC,GCT A330A NP_060673.1

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