Product Details

SNP ID

rs142220657

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:16590812 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCATTTCAGCTTATTTCCAACTCA[C/G]CTATCCTTGGCTCTGAAAAGCTGTC

Phenotype

MIM: 300380

Polymorphism

C/G, Transversion 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	2486	Missense Mutation	GCT,GGT	A581G	NP_001137474.1
NM_019857.4	2486	Missense Mutation	GCT,GGT	A581G	NP_062831.3
NM_175859.2	2486	Missense Mutation	GCT,GGT	A581G	NP_787055.1
XM_005274562.3	2486	Missense Mutation	GCT,GGT	A581G	XP_005274619.1
XM_006724503.3	2486	Missense Mutation	GCT,GGT	A581G	XP_006724566.1
XM_011545545.2	2486	Missense Mutation	GCT,GGT	A623G	XP_011543847.1

View Full Product Details