Product Details

SNP ID
rs57164758
Assay Type
Functionally tested
NCBI dbSNP Submissions
1
Location
Chr.1:169921696 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTTATCAAGATCCATAGCCATAGT[A/T]GTAAGGTTCATCAGGGCGGAATCCA
Phenotype
MIM: 601836
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
KIFAP3 PubMed Links

Gene Details

Gene
KIFAP3
Gene Name
kinesin associated protein 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001204514.1 2794 Missense Mutation AAC,TAC N709Y NP_001191443.1
NM_001204516.1 2794 Missense Mutation AAC,TAC N743Y NP_001191445.1
NM_001204517.1 2794 Missense Mutation AAC,TAC N747Y NP_001191446.1
NM_014970.3 2794 Missense Mutation AAC,TAC N787Y NP_055785.2
XM_005244970.1 2794 UTR 3 XP_005245027.1
XM_011509307.2 2794 UTR 3 XP_011507609.2

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