Product Details

SNP ID
rs143123980
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:101698041 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCTGCTCCAGTGGATCCCGCTCTG[C/G]ATGGCCCCCAACTCCATCACCCTGC
Phenotype
MIM: 616747 MIM: 160794
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
CHPT1 PubMed Links

Gene Details

Gene
CHPT1
Gene Name
choline phosphotransferase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_020244.2 403 Missense Mutation TGC,TGG C60W NP_064629.2
XM_011538574.1 403 Missense Mutation TGC,TGG C60W XP_011536876.1
XM_011538575.1 403 Intron XP_011536877.1
Gene
MYBPC1
Gene Name
myosin binding protein C, slow type
There are no transcripts associated with this gene.

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