Product Details

SNP ID

rs11795761

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:16652024 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TTATGACCATAGAGCAGGATGGGGG[C/G]GGCCAGTGGATGGAAAATTACCAAG

Phenotype

MIM: 300380 MIM: 302020

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		Intron			NP_001137474.1
NM_019857.4		Intron			NP_062831.3
NM_175859.2		Intron			NP_787055.1
XM_005274562.3		Intron			XP_005274619.1
XM_006724503.3		Intron			XP_006724566.1
XM_011545545.2		Intron			XP_011543847.1

Gene

S100G

Gene Name

S100 calcium binding protein G

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004057.2		Intron			NP_004048.1
XM_017029841.1		Intron			XP_016885330.1

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