Product Details

SNP ID
rs147995269
Assay Type
Functionally tested
NCBI dbSNP Submissions
4
Location
Chr.1:10400552 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTGGTGAAGGCTGGGCAAGCTGTG[C/G]ATGATTTCATCGAGAAATTGGTGAG
Phenotype
MIM: 172200
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
PGD PubMed Links

Gene Details

Gene
PGD
Gene Name
phosphogluconate dehydrogenase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001304451.1 370 Missense Mutation CAT,GAT H82D NP_001291380.1
NM_001304452.1 370 Missense Mutation CAT,GAT H69D NP_001291381.1
NM_002631.3 370 Missense Mutation CAT,GAT H82D NP_002622.2

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