Product Details

SNP ID

rs143501659

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:40984882 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCTTGACCTGGGTAACTATGAGCG[G/T]TTCCTTGACATCCGCCTCACCAAGG

Phenotype

MIM: 123860

Polymorphism

G/T, Transversion 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	772	Intron			NP_001288166.1
NM_001905.3	772	Silent Mutation	CGG,CGT	R76R	NP_001896.2

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