Product Details

SNP ID
rs12093021
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:42456626 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCTCCCGGTGCTGCGCGCTGGGCT[A/G]AGGTTATGGCTCGCTTCGCGGCCAG
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_001077447.2 133 UTR 5 NP_001070915.1
NM_001287506.1 133 Intron NP_001274435.1
NM_001287507.1 133 Intron NP_001274436.1
NM_001287508.1 133 UTR 5 NP_001274437.1
NM_001287509.1 133 Intron NP_001274438.1
NM_001287510.1 133 UTR 5 NP_001274439.1
NM_001287511.1 133 Missense Mutation AAG,GAG K21E NP_001274440.1
NM_024664.3 133 Missense Mutation AAG,GAG K21E NP_078940.2
Gene
ZMYND12
Gene Name
zinc finger MYND-type containing 12
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001146192.1 133 Intron NP_001139664.1
NM_032257.4 133 Intron NP_115633.3

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