Product Details

SNP ID
rs142016314
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:44740982 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCTGTGTTTCAGTGGAATGGGCAG[A/G]AGGAGGTGCCACAAAGGGCAAAGAG
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_001297655.1 369 Missense Mutation GAA,GGA E47G NP_001284584.1
NM_001297656.1 369 Intron NP_001284585.1
NM_001297657.1 369 Intron NP_001284586.1
NM_006845.3 369 Missense Mutation GAA,GGA E47G NP_006836.2
XM_011540540.2 369 UTR 5 XP_011538842.1
XM_011540541.2 369 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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