Product Details

SNP ID
rs144347088
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:75028331 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACCAGACCCCACATGGAACCAAAG[G/T]CCTCCTGTCCAGCTGCTGCACCCTT
Phenotype
MIM: 609854 MIM: 613766
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
PPCDC PubMed Links

Gene Details

Gene
PPCDC
Gene Name
phosphopantothenoylcysteine decarboxylase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001301101.1 157 Missense Mutation GCC,TCC A5S NP_001288030.1
NM_001301102.1 157 Missense Mutation GCC,TCC A5S NP_001288031.1
NM_001301103.1 157 Missense Mutation GCC,TCC A5S NP_001288032.1
NM_001301104.1 157 Intron NP_001288033.1
NM_001301105.1 157 Intron NP_001288034.1
NM_021823.4 157 Missense Mutation GCC,TCC A5S NP_068595.3
XM_017022461.1 157 Missense Mutation GCC,TCC A5S XP_016877950.1
XM_017022462.1 157 Intron XP_016877951.1
XM_017022463.1 157 Intron XP_016877952.1
XM_017022464.1 157 Missense Mutation GCC,TCC A5S XP_016877953.1
XM_017022465.1 157 Missense Mutation GCC,TCC A5S XP_016877954.1
Gene
SCAMP5
Gene Name
secretory carrier membrane protein 5
There are no transcripts associated with this gene.

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