Product Details

SNP ID

rs1042597

Assay Type

DME

NCBI dbSNP Submissions

NA

Location

Chr.2:233618225 on Build GRCh38

Set Membership

DME Validated Inventoried

Context Sequence [VIC/FAM]

TCTGTGGTCTTCGCCAGGGGAATAG[C/G]TTGCCACTATCTTGAAGAAGGTGCA

Phenotype

MIM: 606433

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

UGT1A8*2,c.518C>G UGT1A8*2,c.518G>C UGT1A8*2,g.518G>C

Literature Links

UGT1A8 PubMed Links

Gene Details

Gene

UGT1A8

Gene Name

UDP glucuronosyltransferase family 1 member A8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_019076.4	581	Missense Mutation	GCT,GGT	A173G	NP_061949.3

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