Product Details

SNP ID
rs146809339
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:1231263 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCCCGCTGCCGCTGGAAGTGGTGC[C/G]GCTTGGGGGAACCTGCGCACGGGAT
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 1670 Missense Mutation CCG,CGG P331R NP_689982.3
XM_017026555.1 1670 Missense Mutation CCG,CGG P453R XP_016882044.1
XM_017026556.1 1670 Missense Mutation CCG,CGG P331R XP_016882045.1
XM_017026557.1 1670 Missense Mutation CCG,CGG P153R XP_016882046.1
XM_017026558.1 1670 Missense Mutation CCG,CGG P153R XP_016882047.1
XM_017026559.1 1670 Missense Mutation CCG,CGG P453R XP_016882048.1
XM_017026560.1 1670 Intron XP_016882049.1
XM_017026561.1 1670 Intron XP_016882050.1
XM_017026562.1 1670 Intron XP_016882051.1
Gene
STK11
Gene Name
serine/threonine kinase 11
There are no transcripts associated with this gene.

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