Product Details

SNP ID
rs202230300
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:17764129 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACATACTCATTGACAGCACAGAACC[C/T]AAAAGGCTGCCTCTGGAATTATTAC
Phenotype
MIM: 605433
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
KIF13A PubMed Links

Gene Details

Gene
KIF13A
Gene Name
kinesin family member 13A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001105566.2 5462 Nonsense Mutation TAG,TGG *1765W NP_001099036.1
NM_001105567.2 5462 Nonsense Mutation TAG,TGG *1752W NP_001099037.1
NM_001105568.2 5462 Intron NP_001099038.1
NM_001243423.1 5462 Intron NP_001230352.1
NM_022113.5 5462 Nonsense Mutation TAG,TGG *1800W NP_071396.4
XM_011514806.2 5462 Intron XP_011513108.1
XM_017011188.1 5462 Intron XP_016866677.1
XM_017011189.1 5462 Nonsense Mutation TAG,TGG *1787W XP_016866678.1
XM_017011190.1 5462 Nonsense Mutation TAG,TGG *1779W XP_016866679.1
XM_017011191.1 5462 Nonsense Mutation TAG,TGG *1766W XP_016866680.1
XM_017011192.1 5462 Intron XP_016866681.1
XM_017011193.1 5462 Nonsense Mutation TAG,TGG *1689W XP_016866682.1

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