Product Details

SNP ID

rs388554

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.3:120634694 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

ATAGAGAGATGTGGCAGTGGCAACC[C/G]TTACAAAATCAAACACTGGACATGA

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		Intron			NP_000178.2
XM_005247412.1		Intron			XP_005247469.1
XM_005247413.1		Intron			XP_005247470.1
XM_005247414.4		Intron			XP_005247471.1
XM_011512746.1		Intron			XP_011511048.1
XM_017006277.1		Intron			XP_016861766.1

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