Product Details

SNP ID
rs139191778
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:132696678 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATTACAGTTTCAGGCTTTGCAGAAC[A/G]CTTTCTGTTTGGAGAAGAAAAAAAG
Phenotype
MIM: 604683
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
KIF3A PubMed Links

Gene Details

Gene
KIF3A
Gene Name
kinesin family member 3A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001300791.1 2296 Missense Mutation CGT,TGT R713C NP_001287720.1
NM_001300792.1 2296 Missense Mutation CGT,TGT R689C NP_001287721.1
NM_007054.6 2296 Missense Mutation CGT,TGT R686C NP_008985.3
XM_006714526.3 2296 Intron XP_006714589.1
XM_017008995.1 2296 Intron XP_016864484.1
XM_017008996.1 2296 Intron XP_016864485.1

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