Product Details

SNP ID
rs2279922
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:81190907 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
GCCCACCTGACACCCGCCCACTCAC[C/T]GCCTGCGCATCCTCCAGCGCCCGCT
Phenotype
MIM: 613479
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
AATK-AS1 PubMed Links

Gene Details

Gene
AATK-AS1
Gene Name
AATK antisense RNA 1
There are no transcripts associated with this gene.

Gene
CEP131
Gene Name
centrosomal protein 131
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001009811.3 3196 Silent Mutation GCA,GCG A945A NP_001009811.2
NM_001319228.1 3196 Silent Mutation GCA,GCG A984A NP_001306157.1
NM_001319229.1 3196 Silent Mutation GCA,GCG A948A NP_001306158.1
NM_014984.3 3196 Silent Mutation GCA,GCG A981A NP_055799.2
XM_011524547.2 3196 Silent Mutation GCA,GCG A989A XP_011522849.1
XM_011524548.2 3196 Silent Mutation GCA,GCG A986A XP_011522850.1
XM_011524550.2 3196 Silent Mutation GCA,GCG A983A XP_011522852.1
XM_011524551.2 3196 Silent Mutation GCA,GCG A989A XP_011522853.1
XM_011524552.2 3196 Silent Mutation GCA,GCG A953A XP_011522854.1
XM_011524553.2 3196 Silent Mutation GCA,GCG A948A XP_011522855.1
XM_011524555.2 3196 Silent Mutation GCA,GCG A989A XP_011522857.1
XM_017024369.1 3196 Silent Mutation GCA,GCG A984A XP_016879858.1

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