Product Details

SNP ID
rs202221752
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:43594815 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AACTTCGGAGTAATTGGAAGATTCA[G/T]AGGTGACTGACCATGTATATTGTTT
Phenotype
MIM: 607589
Polymorphism
G/T, Transversion 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_001303458.2 540 Missense Mutation CAG,CAT Q39H NP_001290387.1
NM_001303459.2 540 Missense Mutation CAG,CAT Q39H NP_001290388.1
NM_001323578.1 540 UTR 5 NP_001310507.1
NM_001323579.1 540 UTR 5 NP_001310508.1
NM_001323580.1 540 UTR 5 NP_001310509.1
NM_001323581.1 540 UTR 5 NP_001310510.1
NM_016004.4 540 Missense Mutation CAG,CAT Q39H NP_057088.2
XM_017027863.1 540 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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