Product Details

SNP ID

rs111493048

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:40988640 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATAGAAAGCATGCCCTTTATTGAGG[C/T]CTTCCGTCAGTTCCAATTCAAGGTC

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	1029	Missense Mutation	GCC,GTC	A6V	NP_001288166.1
NM_001905.3	1029	Missense Mutation	GCC,GTC	A162V	NP_001896.2

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