Product Details
- SNP ID
-
rs78630393
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
14
- Location
-
Chr.1:40984717 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AAGTGAATTTCTGTGCTTCCTATTA[C/T]GTAATTGCACACCTTGTTAATGAGT
- Phenotype
-
MIM: 123860
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
CTPS1
PubMed Links
Gene Details
- Gene
- CTPS1
- Gene Name
- CTP synthase 1
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