Product Details

SNP ID
rs368717991
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.3:120633257 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATTGTGCTGTGTAGACTCCCTCCCC[C/G]TGGCAGGAACCCACCTTGCTTTGCC
Phenotype
MIM: 607474
Polymorphism
C/G, Transversion Substitution
Allele Nomenclature
Literature Links
HGD PubMed Links

Gene Details

Gene
HGD
Gene Name
homogentisate 1,2-dioxygenase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000187.3 1538 Missense Mutation CGG,GGG R360G NP_000178.2
XM_005247412.1 1538 Missense Mutation CGG,GGG R285G XP_005247469.1
XM_005247413.1 1538 Intron XP_005247470.1
XM_005247414.4 1538 Intron XP_005247471.1
XM_011512746.1 1538 Intron XP_011511048.1
XM_017006277.1 1538 Missense Mutation CGG,GGG R219G XP_016861766.1

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