Product Details

SNP ID
rs148243589
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.14:103520505 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGGTGCAGAAGCGGGTGAACACCTC[C/T]TTCATGTTGCCCCCCTTCTGCATGG
Phenotype
MIM: 123280
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
CKB PubMed Links

Gene Details

Gene
CKB
Gene Name
creatine kinase B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001823.4 893 Silent Mutation AAA,AAG K247K NP_001814.2
XM_017020951.1 893 Silent Mutation AAA,AAG K271K XP_016876440.1
XM_017020952.1 893 Intron XP_016876441.1
Gene
TRMT61A
Gene Name
tRNA methyltransferase 61A
There are no transcripts associated with this gene.

View Full Product Details