Product Details

SNP ID
rs149593529
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:46750291 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AACCATACCTGTTGAAGTGGAAATA[C/T]GACCTTTGCCCTCCCTCTCCATCTC
Phenotype
MIM: 611142
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CKAP5 PubMed Links

Gene Details

Gene
CKAP5
Gene Name
cytoskeleton associated protein 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001008938.3 5813 Missense Mutation CAT,CGT H1896R NP_001008938.1
NM_014756.3 5813 Missense Mutation CAT,CGT H1836R NP_055571.2
Gene
MIR5582
Gene Name
microRNA 5582
There are no transcripts associated with this gene.

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