Product Details

SNP ID

rs2059331

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:120689243 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTAGTCCGCCTCTTCCAGTCACTGA[C/G]CCATTTGCAAAGGAGAGAAGAGGGA

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

There are no transcripts associated with this gene.

Gene

RABL3

Gene Name

RAB, member of RAS oncogene family like 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_173825.3	1233	UTR 3			NP_776186.2
XM_006713595.2	1233	UTR 3			XP_006713658.1
XM_017006227.1	1233	UTR 3			XP_016861716.1
XM_017006228.1	1233	UTR 3			XP_016861717.1

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