Product Details

SNP ID
rs139142699
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:132725782 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGGTCCCCATTGAGGGTGATGGCC[C/G]ACCCATACAACTGCTCCAAGTCAGC
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 1282 Missense Mutation TCG,TGG S245W NP_001304887.1
NM_001317959.1 1282 Missense Mutation TCG,TGG S277W NP_001304888.1
NM_152572.2 1282 Missense Mutation TCG,TGG S449W NP_689785.1
XM_005272169.2 1282 Missense Mutation TCG,TGG S461W XP_005272226.1
XM_006716965.2 1282 Missense Mutation TCG,TGG S377W XP_006717028.1
XM_011518277.2 1282 Intron XP_011516579.1
XM_011518278.2 1282 Missense Mutation TCG,TGG S375W XP_011516580.1
XM_017014308.1 1282 Missense Mutation TCG,TGG S277W XP_016869797.1

View Full Product Details