Product Details

SNP ID
rs148888998
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:43594714 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAAGGTAACCATGGAGAAAGAGCTG[C/T]GGAGCACCATTCTTTTCAATGCCTA
Phenotype
MIM: 607589
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
IFT52 PubMed Links

Gene Details

Gene
IFT52
Gene Name
intraflagellar transport 52
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001303458.2 439 Missense Mutation CGG,TGG R6W NP_001290387.1
NM_001303459.2 439 Missense Mutation CGG,TGG R6W NP_001290388.1
NM_001323578.1 439 UTR 5 NP_001310507.1
NM_001323579.1 439 UTR 5 NP_001310508.1
NM_001323580.1 439 UTR 5 NP_001310509.1
NM_001323581.1 439 UTR 5 NP_001310510.1
NM_016004.4 439 Missense Mutation CGG,TGG R6W NP_057088.2
XM_017027863.1 439 UTR 5 XP_016883352.1
Gene
SGK2
Gene Name
SGK2, serine/threonine kinase 2
There are no transcripts associated with this gene.

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