Product Details

SNP ID
rs150387982
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:36758325 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTCCAGCTCGTCATGCCAGGGCCC[A/G]GAAAACCTCCACCTTCTCCCGGTAC
Phenotype
MIM: 615870
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
IFT27 PubMed Links

Gene Details

Gene
IFT27
Gene Name
intraflagellar transport 27
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001177701.2 977 Missense Mutation CGG,TGG R183W NP_001171172.1
NM_006860.4 977 Missense Mutation CGG,TGG R182W NP_006851.1
XM_006724106.2 977 Missense Mutation CGG,TGG R183W XP_006724169.1
XM_017028540.1 977 Missense Mutation CGG,TGG R142W XP_016884029.1
Gene
LOC105373021
Gene Name
uncharacterized LOC105373021
There are no transcripts associated with this gene.

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