Product Details

SNP ID

rs4831045

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:16618053 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTGTACAACCATTACCACAACCAA[C/T]TGAAAAACAAACCCTGTACCCTTTA

Phenotype

MIM: 300380

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CTPS2 PubMed Links

Gene Details

Gene

CTPS2

Gene Name

CTP synthase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001144002.1		Intron			NP_001137474.1
NM_019857.4		Intron			NP_062831.3
NM_175859.2		Intron			NP_787055.1

Gene

MIR548AM

Gene Name

microRNA 548am

There are no transcripts associated with this gene.

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