Product Details

SNP ID
rs2293424
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.19:47476896 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
GGACGCTGTCAAACTGGTCACTGCC[A/G]GGCAGGAGAAGCTGGTCTTCAAGAC
Phenotype
MIM: 615620 MIM: 601901
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
KPTN PubMed Links

Gene Details

Gene
KPTN
Gene Name
kaptin, actin binding protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001291296.1 842 Silent Mutation CCC,CCT P246P NP_001278225.1
NM_007059.3 842 Silent Mutation CCC,CCT P302P NP_008990.2
XM_011526399.2 842 Silent Mutation CCC,CCT P364P XP_011524701.1
XM_017026226.1 842 Silent Mutation CCC,CCT P386P XP_016881715.1
XM_017026227.1 842 Silent Mutation CCC,CCT P386P XP_016881716.1
XM_017026228.1 842 Silent Mutation CCC,CCT P386P XP_016881717.1
XM_017026229.1 842 Intron XP_016881718.1
Gene
NAPA-AS1
Gene Name
NAPA antisense RNA 1
There are no transcripts associated with this gene.

Gene
SLC8A2
Gene Name
solute carrier family 8 member A2
There are no transcripts associated with this gene.

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