Product Details

SNP ID
rs140281244
Assay Type
Functionally Tested
NCBI dbSNP Submissions
3
Location
Chr.1:41017291 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACAGCGGGCCCTGGATGCTCCCGTC[A/G]CGCCGCAGAAACACCTCCCCCTGGT
Phenotype
MIM: 123860 MIM: 616396
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
CTPS1 PubMed Links

Gene Details

Gene
CTPS1
Gene Name
CTP synthase 1
There are no transcripts associated with this gene.

Gene
SCMH1
Gene Name
sex comb on midleg homolog 1 (Drosophila)
There are no transcripts associated with this gene.

Gene
SLFNL1
Gene Name
schlafen like 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001168247.2 1357 Silent Mutation CGC,CGT R348R NP_001161719.1
NM_001300859.1 1357 Silent Mutation CGC,CGT R289R NP_001287788.1
NM_144990.3 1357 Silent Mutation CGC,CGT R348R NP_659427.3
XM_005270597.2 1357 Silent Mutation CGC,CGT R348R XP_005270654.1
XM_005270598.2 1357 Silent Mutation CGC,CGT R348R XP_005270655.1
XM_005270599.2 1357 Silent Mutation CGC,CGT R348R XP_005270656.1
XM_006710432.3 1357 Silent Mutation CGC,CGT R348R XP_006710495.1
XM_011540943.1 1357 Silent Mutation CGC,CGT R348R XP_011539245.1
XM_011540945.1 1357 Silent Mutation CGC,CGT R348R XP_011539247.1
XM_011540947.1 1357 Silent Mutation CGC,CGT R348R XP_011539249.1
XM_011540948.1 1357 Silent Mutation CGC,CGT R348R XP_011539250.1
XM_011540949.1 1357 Silent Mutation CGC,CGT R348R XP_011539251.1
XM_011540950.1 1357 Silent Mutation CGC,CGT R348R XP_011539252.1
XM_011540951.1 1357 Silent Mutation CGC,CGT R348R XP_011539253.1
XM_011540952.2 1357 Silent Mutation CGC,CGT R348R XP_011539254.1
XM_011540953.2 1357 Silent Mutation CGC,CGT R348R XP_011539255.1
XM_011540954.1 1357 Silent Mutation CGC,CGT R348R XP_011539256.1
XM_017000573.1 1357 Intron XP_016856062.1
XM_017000574.1 1357 Silent Mutation CGC,CGT R288R XP_016856063.1
Gene
SLFNL1-AS1
Gene Name
SLFNL1 antisense RNA 1
There are no transcripts associated with this gene.

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