Product Details

SNP ID
rs202247818
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:136256586 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGAGACAGCGTGGTCACTGGACGAG[A/G]CCGAATCAATGGAAGATTGGTTTAT
Phenotype
MIM: 232050
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
PCCB PubMed Links

Gene Details

Gene
PCCB
Gene Name
propionyl-CoA carboxylase beta subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000532.4 386 Missense Mutation GAC,GGC D112G NP_000523.2
NM_001178014.1 386 Missense Mutation GAC,GGC D112G NP_001171485.1
XM_011512873.1 386 Missense Mutation GAC,GGC D112G XP_011511175.1

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