Product Details

SNP ID
rs200313536
Assay Type
Functionally tested
NCBI dbSNP Submissions
3
Location
Chr.1:44739939 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCCTTGCTGACTCTCCGAATGGCC[A/G]TGGACTCGTCGCTTCAGGCCCGCCT
Phenotype
MIM: 604538
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
KIF2C PubMed Links

Gene Details

Gene
KIF2C
Gene Name
kinesin family member 2C
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001297655.1 236 Missense Mutation ATG,GTG M3V NP_001284584.1
NM_001297656.1 236 Intron NP_001284585.1
NM_001297657.1 236 Intron NP_001284586.1
NM_006845.3 236 Missense Mutation ATG,GTG M3V NP_006836.2
XM_011540540.2 236 UTR 5 XP_011538842.1
XM_011540541.2 236 Intron XP_011538843.1
Gene
RNU5D-1
Gene Name
RNA, U5D small nuclear 1
There are no transcripts associated with this gene.

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