Product Details

SNP ID
rs2268172
Assay Type
Functionally tested
NCBI dbSNP Submissions
35
Location
Chr.1:9240688 on Build GRCh38
Set Membership
HapMap JSNP
Context Sequence [VIC/FAM]
CTCATTGATTTGTTAATTTTTTGAG[A/C]AGAAGTGATTCGTAGTTGGATAAGC
Phenotype
MIM: 138090
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
H6PD PubMed Links

Gene Details

Gene
H6PD
Gene Name
hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001282587.1 654 Intron NP_001269516.1
NM_004285.3 654 Intron NP_004276.2
XM_005263540.4 654 UTR 5 XP_005263597.1
XM_006711052.3 654 Intron XP_006711115.1
XM_017002865.1 654 Intron XP_016858354.1
XM_017002866.1 654 Intron XP_016858355.1

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