Product Details

SNP ID
rs143399254
Assay Type
Functionally tested
NCBI dbSNP Submissions
1
Location
Chr.1:205337511 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TATGCTGGAGCAGGCACAGCGGGGT[A/G]TGGGCATGGCAGGGAGGATCTCCCA
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 1485 Missense Mutation ACA,ATA T314I NP_001258792.1
NM_001271864.1 1485 Missense Mutation ACA,ATA T314I NP_001258793.1
NM_001271865.1 1485 Missense Mutation ACA,ATA T314I NP_001258794.1
NM_018203.2 1485 Missense Mutation ACA,ATA T314I NP_060673.1

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