Product Details

SNP ID

rs61743973

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:24558332 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TATGCTCTACTTATGGCTTTGTCCC[G/T]GGACACATCGCAGTGACACAACAGA

Phenotype

MIM: 300948 MIM: 300906

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

PCYT1B PubMed Links

Gene Details

Gene

PCYT1B

Gene Name

phosphate cytidylyltransferase 1, choline, beta

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001163264.1	5129	UTR 3			NP_001156736.1
NM_001163265.1	5129	UTR 3			NP_001156737.1
NM_004845.4	5129	UTR 3			NP_004836.2
XM_017029977.1	5129	UTR 3			XP_016885466.1

Gene

PDK3

Gene Name

pyruvate dehydrogenase kinase 3

There are no transcripts associated with this gene.

View Full Product Details