Product Details

SNP ID
rs61745591
Assay Type
Functionally tested
NCBI dbSNP Submissions
17
Location
Chr.1:42459782 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGCTAATATCCTTGAGTCACGACA[C/G]TCCTTTGTGTTTATTGTAACCAAAG
Phenotype
MIM: 609853
Polymorphism
C/G, Transversion 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_001077447.2 660 Missense Mutation CAC,CAG H91Q NP_001070915.1
NM_001287506.1 660 Missense Mutation CAC,CAG H91Q NP_001274435.1
NM_001287507.1 660 Missense Mutation CAC,CAG H58Q NP_001274436.1
NM_001287508.1 660 Missense Mutation CAC,CAG H91Q NP_001274437.1
NM_001287509.1 660 Missense Mutation CAC,CAG H91Q NP_001274438.1
NM_001287510.1 660 Missense Mutation CAC,CAG H91Q NP_001274439.1
NM_001287511.1 660 Intron NP_001274440.1
NM_024664.3 660 Missense Mutation CAC,CAG H264Q 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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