Product Details

SNP ID
rs147637903
Assay Type
Functionally tested
NCBI dbSNP Submissions
14
Location
Chr.1:44739934 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCTCTTCCTTGCTGACTCTCCGAA[A/T]GGCCATGGACTCGTCGCTTCAGGCC
Phenotype
MIM: 604538
Polymorphism
A/T, Transversion 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_001297655.1 231 Missense Mutation AAG,ATG K1M NP_001284584.1
NM_001297656.1 231 Intron NP_001284585.1
NM_001297657.1 231 Intron NP_001284586.1
NM_006845.3 231 Missense Mutation AAG,ATG K1M NP_006836.2
XM_011540540.2 231 UTR 5 XP_011538842.1
XM_011540541.2 231 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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