Product Details

SNP ID

rs78111712

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:101701738 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAATCTCTATAGCACAGTGCTTTAC[A/G]TCAAACAGATGCTTATAATTTTGCA

Phenotype

MIM: 616747 MIM: 160794

Polymorphism

A/G, 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		Intron			NP_064629.2
XM_011538574.1		Intron			XP_011536876.1
XM_011538575.1		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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