Product Details

SNP ID
rs138440349
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:132725700 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCTCTGAACCCATCAGGGGATTTT[C/G]TTGGGCAGGGGATTAATGATCCCAC
Phenotype
MIM: 615365
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
AK8 PubMed Links

Gene Details

Gene
AK8
Gene Name
adenylate kinase 8
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001317958.1 1364 Missense Mutation AAC,AAG N272K NP_001304887.1
NM_001317959.1 1364 Missense Mutation AAC,AAG N304K NP_001304888.1
NM_152572.2 1364 Missense Mutation AAC,AAG N476K NP_689785.1
XM_005272169.2 1364 Missense Mutation AAC,AAG N488K XP_005272226.1
XM_006716965.2 1364 Missense Mutation AAC,AAG N404K XP_006717028.1
XM_011518277.2 1364 Intron XP_011516579.1
XM_011518278.2 1364 Missense Mutation AAC,AAG N402K XP_011516580.1
XM_017014308.1 1364 Missense Mutation AAC,AAG N304K XP_016869797.1

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