Product Details

SNP ID
rs181445741
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:47475475 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCCCGTCCTCCAACCCCTGTAGCC[A/G]ACGTCTCCTCTGCTCCACTTGATGT
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 1188 Missense Mutation CGG,TGG R362W NP_001278225.1
NM_007059.3 1188 Missense Mutation CGG,TGG R418W NP_008990.2
XM_011526399.2 1188 Missense Mutation CGG,TGG R480W XP_011524701.1
XM_017026226.1 1188 Missense Mutation CGG,TGG R541W XP_016881715.1
XM_017026227.1 1188 Missense Mutation CGG,TGG R541W XP_016881716.1
XM_017026228.1 1188 Missense Mutation CGG,TGG R502W XP_016881717.1
XM_017026229.1 1188 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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