Product Details

SNP ID
rs189468601
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:28615189 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGTTCAGGTCCGATTTAGTTTCTA[A/G]CTTTCCCCGGACCTCAGAGCCTGTT
Phenotype
MIM: 610664
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
KIAA0100 PubMed Links

Gene Details

Gene
KIAA0100
Gene Name
KIAA0100
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_014680.3 6686 Silent Mutation CTA,TTA L2195L NP_055495.2
XM_005258073.2 6686 Silent Mutation CTA,TTA L2194L XP_005258130.1
XM_017025423.1 6686 Silent Mutation CTA,TTA L2052L XP_016880912.1
Gene
SGK494
Gene Name
uncharacterized serine/threonine-protein kinase SgK494
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001174103.1 6686 Intron NP_001167574.1
Gene
SPAG5-AS1
Gene Name
SPAG5 antisense RNA 1
There are no transcripts associated with this gene.

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