Product Details

SNP ID
rs146874552
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:132725767 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GACTGTGTATGGGTCCTGGTCCCCA[C/T]TGAGGGTGATGGCCGACCCATACAA
Phenotype
MIM: 615365
Polymorphism
C/T, Transition 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 1297 Missense Mutation AAT,AGT N250S NP_001304887.1
NM_001317959.1 1297 Missense Mutation AAT,AGT N282S NP_001304888.1
NM_152572.2 1297 Missense Mutation AAT,AGT N454S NP_689785.1
XM_005272169.2 1297 Missense Mutation AAT,AGT N466S XP_005272226.1
XM_006716965.2 1297 Missense Mutation AAT,AGT N382S XP_006717028.1
XM_011518277.2 1297 Intron XP_011516579.1
XM_011518278.2 1297 Missense Mutation AAT,AGT N380S XP_011516580.1
XM_017014308.1 1297 Missense Mutation AAT,AGT N282S XP_016869797.1

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