Product Details

SNP ID
rs116342308
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:112738977 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATTTCTGGGTAGCGGGACACTGCT[C/T]GCTCAATCCTCGACGAACGCCGTAC
Phenotype
MIM: 616174
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CKAP2L PubMed Links

Gene Details

Gene
CKAP2L
Gene Name
cytoskeleton associated protein 2 like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001304361.1 2163 Missense Mutation CAA,CGA Q530R NP_001291290.1
NM_152515.4 2163 Missense Mutation CAA,CGA Q695R NP_689728.3
XM_011510666.2 2163 Missense Mutation CAA,CGA Q530R XP_011508968.1
Gene
NT5DC4
Gene Name
5'-nucleotidase domain containing 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
XM_011512262.2 2163 Intron XP_011510564.1
XM_011512265.2 2163 Intron XP_011510567.1
XM_017005474.1 2163 Intron XP_016860963.1
XM_017005475.1 2163 Intron XP_016860964.1
XM_017005476.1 2163 Intron XP_016860965.1
XM_017005477.1 2163 Intron XP_016860966.1
XM_017005478.1 2163 Intron XP_016860967.1

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