Product Details

SNP ID

rs12010843

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.X:16589560 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

CACTTTCTCCCCAGTGAGGTTGTTG[A/G]GAAAAATTTAATCAGCTACAGATAT

Phenotype

MIM: 300380

Polymorphism

A/G, 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	2762	UTR 3			NP_001137474.1
NM_019857.4	2762	UTR 3			NP_062831.3
NM_175859.2	2762	UTR 3			NP_787055.1
XM_005274562.3	2762	UTR 3			XP_005274619.1
XM_006724503.3	2762	UTR 3			XP_006724566.1
XM_011545545.2	2762	UTR 3			XP_011543847.1

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