Product Details

SNP ID
rs141187532
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:137435044 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCGCCACTGAGCCGGCGCATCGGCC[A/G]GGATCATCCCGGTCAGGTTCAGCAT
Phenotype
MIM: 616748 MIM: 611255
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ENTPD8 PubMed Links

Gene Details

Gene
ENTPD8
Gene Name
ectonucleoside triphosphate diphosphohydrolase 8
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001033113.1 1203 Missense Mutation CCG,CTG P453L NP_001028285.1
NM_198585.2 1203 Missense Mutation CCG,CTG P416L NP_940987.2
XM_011518665.2 1203 Missense Mutation CCG,CTG P561L XP_011516967.1
XM_011518666.2 1203 Missense Mutation CCG,CTG P524L XP_011516968.1
XM_011518668.1 1203 Missense Mutation CCG,CTG P326L XP_011516970.1
Gene
NOXA1
Gene Name
NADPH oxidase activator 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001256067.1 1203 Intron NP_001242996.1
NM_001256068.1 1203 Intron NP_001242997.1
NM_006647.1 1203 Intron NP_006638.1
XM_011518158.2 1203 Intron XP_011516460.1
XM_011518159.1 1203 Intron XP_011516461.1
XM_011518160.1 1203 Intron XP_011516462.1
XM_017014220.1 1203 Intron XP_016869709.1

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