Product Details

SNP ID
rs146559649
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.X:16719845 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GACGGTGGCTGAGTCTGCGGAGGAG[A/G]AGCTGCAGCAAGCGGGAGACCAGGA
Phenotype
MIM: 300380
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
CTPS2 PubMed Links

Gene Details

Gene
CTPS2
Gene Name
CTP synthase 2
There are no transcripts associated with this gene.

Gene
SYAP1
Gene Name
synapse associated protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_032796.3 262 Missense Mutation AAG,GAG K41E NP_116185.2

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