Product Details

SNP ID

rs72547602

Assay Type

DME

NCBI dbSNP Submissions

2

Location

Chr.1:97079133 on Build GRCh38

Set Membership

DME Validated Inventoried

Context Sequence [VIC/FAM]

TATGGTGGGCAGGTGGGTTTCTGGA[A/T]CAAACTGTATAGCCTGCAAACAGAA

Phenotype

MIM: 612779

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

DPYD PubMed Links

Gene Details

Gene

DPYD

Gene Name

dihydropyrimidine dehydrogenase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000110.3	3268	Missense Mutation	GAT,GTT	D974V	NP_000101.2
NM_001160301.1	3268	Intron			NP_001153773.1
XM_005270562.3	3268	Missense Mutation	GAT,GTT	D902V	XP_005270619.2
XM_006710397.3	3268	Intron			XP_006710460.1
XM_017000507.1	3268	Missense Mutation	GAT,GTT	D937V	XP_016855996.1
XM_017000508.1	3268	Missense Mutation	GAT,GTT	D809V	XP_016855997.1
XM_017000509.1	3268	Missense Mutation	GAT,GTT	D809V	XP_016855998.1
XM_017000510.1	3268	Missense Mutation	GAT,GTT	D809V	XP_016855999.1

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