Product Details

SNP ID
rs138558042
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:120633217 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCCTTCTCAAAGCAGTCAGCATCA[A/G]GTCCATGGGGGGTCATTGTGCTGTG
Phenotype
MIM: 607474
Polymorphism
A/G, Transition 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 1578 Missense Mutation CCT,CTT P373L NP_000178.2
XM_005247412.1 1578 Missense Mutation CCT,CTT P298L XP_005247469.1
XM_005247413.1 1578 Intron XP_005247470.1
XM_005247414.4 1578 Intron XP_005247471.1
XM_011512746.1 1578 Intron XP_011511048.1
XM_017006277.1 1578 Missense Mutation CCT,CTT P232L XP_016861766.1

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