Product Details

SNP ID
rs149997663
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.13:52456548 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCAAAGAAGACAAAAACTCAAGGA[A/G]CATCTGTTGAGAAGAAAAACGCTTT
Phenotype
MIM: 611569 MIM: 610903
Polymorphism
A/G, Transition 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_001098525.2 293 Silent Mutation GAA,GAG E32E NP_001091995.1
NM_001286686.1 293 UTR 5 NP_001273615.1
NM_001286687.1 293 Silent Mutation GAA,GAG E32E NP_001273616.1
NM_018204.4 293 Silent Mutation GAA,GAG E32E NP_060674.3
XM_005266344.4 293 UTR 5 XP_005266401.1
XM_011535043.2 293 UTR 5 XP_011533345.1
Gene
VPS36
Gene Name
vacuolar protein sorting 36 homolog
There are no transcripts associated with this gene.

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