Product Details

SNP ID

rs181743036

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:31337751 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTACCTGTGTGCTGAGCTCGAGCTG[C/T]ACGGATGGCATCTTTGATGGCAAAG

Phenotype

MIM: 607633

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

XDH PubMed Links

Gene Details

Gene

XDH

Gene Name

xanthine dehydrogenase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000379.3	3920	Missense Mutation	ACA,GCA	T1281A	NP_000370.2
XM_011533095.2	3920	Missense Mutation	ACA,GCA	T1280A	XP_011531397.1
XM_011533096.2	3920	Intron			XP_011531398.1

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