Product Details

SNP ID

rs4430318

Assay Type

Functionally tested

NCBI dbSNP Submissions

30

Location

Chr.1:40985764 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CTGCCCTGGCAAGATTCTGGGCTAA[C/T]TGGGTCATGTTTGGATCTTAGCTTC

Phenotype

MIM: 123860

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CTPS1 PubMed Links

Gene Details

Gene

CTPS1

Gene Name

CTP synthase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001301237.1		Intron			NP_001288166.1
NM_001905.3		Intron			NP_001896.2

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