Product Details

SNP ID
rs188411740
Assay Type
Functionally tested
NCBI dbSNP Submissions
8
Location
Chr.1:42456853 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGCCTTCCCCTATGCCCACCGCTT[C/T]CCACCCCAGACTTGGCTGTCCGCTC
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_001077447.2 360 Intron NP_001070915.1
NM_001287506.1 360 Intron NP_001274435.1
NM_001287507.1 360 Intron NP_001274436.1
NM_001287508.1 360 Intron NP_001274437.1
NM_001287509.1 360 Intron NP_001274438.1
NM_001287510.1 360 UTR 5 NP_001274439.1
NM_001287511.1 360 Silent Mutation TTC,TTT F96F NP_001274440.1
NM_024664.3 360 Silent Mutation TTC,TTT F96F 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_001146192.1 360 Intron NP_001139664.1
NM_032257.4 360 Intron NP_115633.3

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