Product Details

SNP ID

rs148272597

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:3500819 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGAAAGCACAGCACTCCCACCTTCT[C/T]GTCCACCGTGAAGCGGTGATAGATC

Phenotype

MIM: 613400

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ADI1 PubMed Links

Gene Details

Gene

ADI1

Gene Name

acireductone dioxygenase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001306077.1	3235	Missense Mutation	AAG,GAG	K133E	NP_001293006.1
NM_018269.3	3235	Missense Mutation	AAG,GAG	K139E	NP_060739.2

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