Product Details

SNP ID
rs55713566
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.17:81119470 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GACACCGTGAAGCGCGAGAAGGGAG[C/T]GGGCGTGGGCGTGGGCGCAGCCGGG
Phenotype
MIM: 605276 MIM: 605475 MIM: 614059
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
AATK PubMed Links
Additional Information
For this assay, SNP(s) [rs8082016] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene
AATK
Gene Name
apoptosis associated tyrosine kinase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001080395.2 3919 Missense Mutation ACT,GCT T1332A NP_001073864.2
NM_004920.2 3919 Missense Mutation ACT,GCT T1229A NP_004911.2
XM_006722193.2 3919 Missense Mutation ACT,GCT T1284A XP_006722256.1
XM_006722194.2 3919 Missense Mutation ACT,GCT T1282A XP_006722257.1
XM_006722195.2 3919 Missense Mutation ACT,GCT T1165A XP_006722258.1
XM_006722196.2 3919 Missense Mutation ACT,GCT T1284A XP_006722259.1
XM_011525509.2 3919 Missense Mutation ACT,GCT T1291A XP_011523811.1
XM_011525510.2 3919 Missense Mutation ACT,GCT T1276A XP_011523812.1
XM_011525511.2 3919 Missense Mutation ACT,GCT T1110A XP_011523813.1
XM_017025421.1 3919 Missense Mutation ACT,GCT T1229A XP_016880910.1
XM_017025422.1 3919 Missense Mutation ACT,GCT T1110A XP_016880911.1
Gene
BAIAP2
Gene Name
BAI1 associated protein 2
There are no transcripts associated with this gene.

Gene
MIR3065
Gene Name
microRNA 3065
There are no transcripts associated with this gene.

Gene
MIR338
Gene Name
microRNA 338
There are no transcripts associated with this gene.

Gene
MIR657
Gene Name
microRNA 657
There are no transcripts associated with this gene.

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