Product Details

SNP ID

rs184187801

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:69589454 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACATTGTATGACCAAAAATATAGCC[A/G]TTGTCACACAGACCAGCAAGAACCC

Phenotype

MIM: 604716

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

UGT2A1 PubMed Links

Gene Details

Gene

UGT2A1

Gene Name

UDP glucuronosyltransferase family 2 member A1 complex locus

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001252274.2	1399	Missense Mutation	ACG,ATG	T667M	NP_001239203.2
NM_001252275.2	1399	Missense Mutation	ACG,ATG	T501M	NP_001239204.2
NM_001301239.1	1399	Missense Mutation	ACG,ATG	T457M	NP_001288168.1
NM_006798.4	1399	Missense Mutation	ACG,ATG	T501M	NP_006789.3

Gene

UGT2A2

Gene Name

UDP glucuronosyltransferase family 2 member A2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001105677.2	1399	Missense Mutation	ACG,ATG	T510M	NP_001099147.2
NM_001301233.1	1399	Missense Mutation	ACG,ATG	T466M	NP_001288162.1

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