Product Details

SNP ID
rs147547634
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:75028448 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTGGTGTCAAAGCTTTTGGACATT[C/T]CTGGGGTGAGTATCCTCACCAGATA
Phenotype
MIM: 609854 MIM: 613766
Polymorphism
C/T, Transition 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_001301101.1 274 Missense Mutation CCT,TCT P44S NP_001288030.1
NM_001301102.1 274 Missense Mutation CCT,TCT P44S NP_001288031.1
NM_001301103.1 274 Missense Mutation CCT,TCT P44S NP_001288032.1
NM_001301104.1 274 Intron NP_001288033.1
NM_001301105.1 274 Intron NP_001288034.1
NM_021823.4 274 Missense Mutation CCT,TCT P44S NP_068595.3
XM_017022461.1 274 Missense Mutation CCT,TCT P44S XP_016877950.1
XM_017022462.1 274 Intron XP_016877951.1
XM_017022463.1 274 Intron XP_016877952.1
XM_017022464.1 274 Missense Mutation CCT,TCT P44S XP_016877953.1
XM_017022465.1 274 Missense Mutation CCT,TCT P44S XP_016877954.1
Gene
SCAMP5
Gene Name
secretory carrier membrane protein 5
There are no transcripts associated with this gene.

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