Product Details

SNP ID
rs11542280
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:69373915 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATTACTGCCACATCATTAGGTGTGA[A/G]TAACTCAAGTCATAGAAGAAAAAAT
Phenotype
MIM: 603139 MIM: 600822
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
AK6 PubMed Links

Gene Details

Gene
AK6
Gene Name
adenylate kinase 6
There are no transcripts associated with this gene.

Gene
RAD17
Gene Name
RAD17 checkpoint clamp loader component
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001278622.1 392 Missense Mutation AAT,AGT N32S NP_001265551.1
NM_002873.1 392 Missense Mutation AAT,AGT N32S NP_002864.1
NM_133338.2 392 Missense Mutation AAT,AGT N32S NP_579916.1
NM_133339.2 392 Missense Mutation AAT,AGT N43S NP_579917.1
NM_133340.2 392 UTR 5 NP_579918.1
NM_133341.2 392 Intron NP_579919.1
NM_133342.2 392 Missense Mutation AAT,AGT N32S NP_579920.1
NM_133343.1 392 Missense Mutation AAT,AGT N32S NP_579921.1
NM_133344.2 392 Missense Mutation AAT,AGT N32S NP_579922.1
XM_017009679.1 392 Missense Mutation AAT,AGT N32S XP_016865168.1
XM_017009680.1 392 Missense Mutation AAT,AGT N32S XP_016865169.1
XM_017009681.1 392 Missense Mutation AAT,AGT N32S XP_016865170.1
Gene
TAF9
Gene Name
TATA-box binding protein associated factor 9
There are no transcripts associated with this gene.

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