Product Details

SNP ID
rs147987671
Assay Type
Functionally tested
NCBI dbSNP Submissions
4
Location
Chr.1:169921748 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGCTGTGGCAGGGCGTCCAAGAAT[C/G]CCAACTGGTTGGCCAAAGCCATCCA
Phenotype
MIM: 601836
Polymorphism
C/G, 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 2742 Silent Mutation GGC,GGG G691G NP_001191443.1
NM_001204516.1 2742 Silent Mutation GGC,GGG G725G NP_001191445.1
NM_001204517.1 2742 Silent Mutation GGC,GGG G729G NP_001191446.1
NM_014970.3 2742 Silent Mutation GGC,GGG G769G NP_055785.2
XM_005244970.1 2742 Missense Mutation CAT,GAT H782D XP_005245027.1
XM_011509307.2 2742 UTR 3 XP_011507609.2

View Full Product Details