Product Details

SNP ID
rs138583090
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.13:52461205 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAAACCTAAGGATAGTAATCAAACT[A/C]CGCATTTGTTACTAACTGAAGATGA
Phenotype
MIM: 611569
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
CKAP2 PubMed Links

Gene Details

Gene
CKAP2
Gene Name
cytoskeleton associated protein 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001098525.2 576 Missense Mutation ACG,CCG T128P NP_001091995.1
NM_001286686.1 576 Missense Mutation ACG,CCG T79P NP_001273615.1
NM_001286687.1 576 Missense Mutation ACG,CCG T127P NP_001273616.1
NM_018204.4 576 Missense Mutation ACG,CCG T127P NP_060674.3
XM_005266344.4 576 Missense Mutation ACG,CCG T80P XP_005266401.1
XM_011535043.2 576 Missense Mutation ACG,CCG T45P XP_011533345.1

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