Product Details

SNP ID
rs201244068
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:47476546 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTGGGGATACCTGCAGGATGTGCA[C/T]GCCCTTCAGGGAGACCACGGCAAGC
Phenotype
MIM: 615620 MIM: 601901
Polymorphism
C/T, 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 1104 Missense Mutation ATG,GTG M334V NP_001278225.1
NM_007059.3 1104 Missense Mutation ATG,GTG M390V NP_008990.2
XM_011526399.2 1104 Missense Mutation ATG,GTG M452V XP_011524701.1
XM_017026226.1 1104 Missense Mutation ATG,GTG M474V XP_016881715.1
XM_017026227.1 1104 Missense Mutation ATG,GTG M474V XP_016881716.1
XM_017026228.1 1104 Missense Mutation ATG,GTG M474V XP_016881717.1
XM_017026229.1 1104 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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