Product Details

SNP ID
rs182769462
Assay Type
Functionally tested
NCBI dbSNP Submissions
5
Location
Chr.1:42459855 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCAGAGGAAGAAATAGAAAAAGGC[A/G]TAGAGATAGAAGAGAAGATAGTGGA
Phenotype
MIM: 609853
Polymorphism
A/G, 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_001077447.2 733 Missense Mutation ATA,GTA I116V NP_001070915.1
NM_001287506.1 733 Missense Mutation ATA,GTA I116V NP_001274435.1
NM_001287507.1 733 Missense Mutation ATA,GTA I83V NP_001274436.1
NM_001287508.1 733 Missense Mutation ATA,GTA I116V NP_001274437.1
NM_001287509.1 733 Missense Mutation ATA,GTA I116V NP_001274438.1
NM_001287510.1 733 Missense Mutation ATA,GTA I116V NP_001274439.1
NM_001287511.1 733 Intron NP_001274440.1
NM_024664.3 733 Missense Mutation ATA,GTA I289V NP_078940.2
Gene
ZMYND12
Gene Name
zinc finger MYND-type containing 12
There are no transcripts associated with this gene.

View Full Product Details