Product Details

SNP ID
rs182019900
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:47480376 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGAGCTGAGAGGCGCCGGGACGTGC[C/G]GGGGAAGTTGTGGACGTCCAGCCAG
Phenotype
MIM: 615620 MIM: 603215 MIM: 601901
Polymorphism
C/G, Transversion 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_001291296.1 567 Missense Mutation CGC,GGC R155G NP_001278225.1
NM_007059.3 567 Missense Mutation CGC,GGC R211G NP_008990.2
XM_011526399.2 567 Missense Mutation CGC,GGC R273G XP_011524701.1
XM_017026226.1 567 Missense Mutation CGC,GGC R295G XP_016881715.1
XM_017026227.1 567 Missense Mutation CGC,GGC R295G XP_016881716.1
XM_017026228.1 567 Missense Mutation CGC,GGC R295G XP_016881717.1
XM_017026229.1 567 Intron XP_016881718.1
Gene
NAPA
Gene Name
NSF attachment protein alpha
There are no transcripts associated with this gene.

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.

View Full Product Details