Product Details

SNP ID

rs7060633

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:24561228 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTTCAGAGGAGTATTATGGTGGAG[C/T]GCAGGAGTGGGGTCTATTATAAAAT

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	2233	UTR 3			NP_001156736.1
NM_001163265.1	2233	UTR 3			NP_001156737.1
NM_004845.4	2233	UTR 3			NP_004836.2
XM_017029977.1	2233	UTR 3			XP_016885466.1

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