Product Details

SNP ID
rs138960809
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:174493299 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCATTCAGTCTCACACCACTGTTCA[C/T]AAGATTAGCAGCCAACTGCCAATTA
Phenotype
MIM: 601688
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
HPGD PubMed Links

Gene Details

Gene
HPGD
Gene Name
hydroxyprostaglandin dehydrogenase 15-(NAD)
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000860.5 691 Missense Mutation ATG,GTG M172V NP_000851.2
NM_001145816.2 691 Intron NP_001139288.1
NM_001256301.1 691 Missense Mutation ATG,GTG M51V NP_001243230.1
NM_001256305.1 691 Intron NP_001243234.1
NM_001256306.1 691 Missense Mutation ATG,GTG M104V NP_001243235.1
NM_001256307.1 691 Missense Mutation ATG,GTG M51V NP_001243236.1
XM_011531907.1 691 Intron XP_011530209.1

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