Product Details

SNP ID

rs141771500

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:101698121 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCGTGCTCATCTCCTACTGTCCCA[C/T]GGCCACCGAAGAGGTAGGGCTGGCC

Phenotype

MIM: 616747 MIM: 160794

Polymorphism

C/T, Transition 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	483	Missense Mutation	ACG,ATG	T87M	NP_064629.2
XM_011538574.1	483	Missense Mutation	ACG,ATG	T87M	XP_011536876.1
XM_011538575.1	483	Intron			XP_011536877.1

Gene

MYBPC1

Gene Name

myosin binding protein C, slow type

There are no transcripts associated with this gene.

View Full Product Details