Product Details

SNP ID
rs146331223
Assay Type
Functionally tested
NCBI dbSNP Submissions
5
Location
Chr.1:42459854 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TATCAGAGGAAGAAATAGAAAAAGG[C/T]GTAGAGATAGAAGAGAAGATAGTGG
Phenotype
MIM: 609853
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PPCS PubMed Links

Gene Details

Gene
PPCS
Gene Name
phosphopantothenoylcysteine synthetase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001077447.2 732 Silent Mutation GGC,GGT G115G NP_001070915.1
NM_001287506.1 732 Silent Mutation GGC,GGT G115G NP_001274435.1
NM_001287507.1 732 Silent Mutation GGC,GGT G82G NP_001274436.1
NM_001287508.1 732 Silent Mutation GGC,GGT G115G NP_001274437.1
NM_001287509.1 732 Silent Mutation GGC,GGT G115G NP_001274438.1
NM_001287510.1 732 Silent Mutation GGC,GGT G115G NP_001274439.1
NM_001287511.1 732 Intron NP_001274440.1
NM_024664.3 732 Silent Mutation GGC,GGT G288G NP_078940.2
Gene
ZMYND12
Gene Name
zinc finger MYND-type containing 12
There are no transcripts associated with this gene.

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