Product Details

SNP ID
rs140733006
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:1231209 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GATGAAGTCCTCCTGGGGGGCATCC[C/G]CCTCCTCCTGCTCCGTGCTCTCACT
Phenotype
MIM: 602216
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
CBARP PubMed Links

Gene Details

Gene
CBARP
Gene Name
CACN beta subunit associated regulatory protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_152769.2 1724 Missense Mutation GCG,GGG A349G NP_689982.3
XM_017026555.1 1724 Missense Mutation GCG,GGG A471G XP_016882044.1
XM_017026556.1 1724 Missense Mutation GCG,GGG A349G XP_016882045.1
XM_017026557.1 1724 Missense Mutation GCG,GGG A171G XP_016882046.1
XM_017026558.1 1724 Missense Mutation GCG,GGG A171G XP_016882047.1
XM_017026559.1 1724 Missense Mutation GCG,GGG A471G XP_016882048.1
XM_017026560.1 1724 Intron XP_016882049.1
XM_017026561.1 1724 Intron XP_016882050.1
XM_017026562.1 1724 Intron XP_016882051.1
Gene
STK11
Gene Name
serine/threonine kinase 11
There are no transcripts associated with this gene.

View Full Product Details