Product Details

SNP ID
rs145104796
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:16654475 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGAGATGGAGAAGTTAGTTTTGAAG[A/C]ATTCCAAGTATTAGTAAAAAAGATA
Phenotype
MIM: 300380 MIM: 302020
Polymorphism
A/C, 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_001144002.1 727 Intron NP_001137474.1
NM_019857.4 727 Intron NP_062831.3
NM_175859.2 727 Intron NP_787055.1
XM_005274562.3 727 Intron XP_005274619.1
XM_006724503.3 727 Intron XP_006724566.1
XM_011545545.2 727 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_004057.2 727 Missense Mutation GAA,GCA E69A NP_004048.1
XM_017029841.1 727 Missense Mutation GAA,GCA E69A XP_016885330.1

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