Product Details

SNP ID
rs1804813
Assay Type
Functionally tested
NCBI dbSNP Submissions
1
Location
Chr.1:33013227 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTACATGTGGCTTTGGAGAAGGCT[A/G]CTAGGATGCTTGCGAACACGACATC
Phenotype
MIM: 103020
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
AK2 PubMed Links

Gene Details

Gene
AK2
Gene Name
adenylate kinase 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001199199.1 662 Missense Mutation GCA,GTA A217V NP_001186128.1
NM_001319139.1 662 Missense Mutation GCA,GTA A177V NP_001306068.1
NM_001319140.1 662 Missense Mutation GCA,GTA A177V NP_001306069.1
NM_001319141.1 662 Missense Mutation GCA,GTA A225V NP_001306070.1
NM_001319142.1 662 Missense Mutation GCA,GTA A183V NP_001306071.1
NM_001319143.1 662 UTR 3 NP_001306072.1
NM_001625.3 662 Missense Mutation GCA,GTA A225V NP_001616.1
NM_013411.4 662 Missense Mutation GCA,GTA A225V NP_037543.1

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