Product Details

SNP ID
rs201007213
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:109495390 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACTAGTAAGAAGTATCGGTTCCCTT[A/T]ATGGGGGAAGCTTGTGTGGAAGCTT
Phenotype
MIM: 615358
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
AK9 PubMed Links

Gene Details

Gene
AK9
Gene Name
adenylate kinase 9
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001145128.2 6308 Nonsense Mutation TAA,TTA *1789L NP_001138600.2
NM_145025.4 6308 Intron NP_659462.1
XM_006715376.3 6308 Nonsense Mutation TAA,TTA *1861L XP_006715439.2
XM_011535550.2 6308 Nonsense Mutation TAA,TTA *1866L XP_011533852.1
XM_011535552.2 6308 Nonsense Mutation TAA,TTA *1794L XP_011533854.1
XM_011535553.2 6308 Nonsense Mutation TAA,TTA *1794L XP_011533855.1
XM_011535554.2 6308 Nonsense Mutation TAA,TTA *1759L XP_011533856.1
XM_011535555.2 6308 Intron XP_011533857.1
XM_011535556.2 6308 Intron XP_011533858.1
XM_011535558.1 6308 Nonsense Mutation TAA,TTA *1070L XP_011533860.1
XM_011535559.2 6308 Intron XP_011533861.1
XM_017010384.1 6308 Intron XP_016865873.1
XM_017010385.1 6308 Nonsense Mutation TAA,TTA *1579L XP_016865874.1
XM_017010386.1 6308 Intron XP_016865875.1
XM_017010387.1 6308 Nonsense Mutation TAA,TTA *1412L XP_016865876.1
XM_017010388.1 6308 Intron XP_016865877.1
XM_017010389.1 6308 Nonsense Mutation TAA,TTA *1211L XP_016865878.1

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