Product Details

SNP ID

rs4297206

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:24563181 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCTGACCTCATACCCTCACAGATA[C/T]GAGGAGGAATCACACAATAAACAAA

Phenotype

MIM: 300948

Polymorphism

C/T, Transition 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		Intron			NP_001156736.1
NM_001163265.1		Intron			NP_001156737.1
NM_004845.4		Intron			NP_004836.2
XM_017029977.1		Intron			XP_016885466.1

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