Product Details

SNP ID
rs41297315
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:16609611 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCAGTTGCTGCAAGTAACAGCCCCA[A/G]ATACGGAGGGGAAGGCTTCATCGGC
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 2365 Silent Mutation CTG,TTG L541L NP_001137474.1
NM_019857.4 2365 Silent Mutation CTG,TTG L541L NP_062831.3
NM_175859.2 2365 Silent Mutation CTG,TTG L541L NP_787055.1
XM_005274562.3 2365 Silent Mutation CTG,TTG L541L XP_005274619.1
XM_006724503.3 2365 Silent Mutation CTG,TTG L541L XP_006724566.1
XM_011545545.2 2365 Silent Mutation CTG,TTG L583L XP_011543847.1

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