Product Details

SNP ID
rs148686581
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:28330465 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TACCTTCATCTTTTCATTTTCTGCT[G/T]CTTTTGCAAGTTGATCAACAAGCTC
Phenotype
MIM: 614394 MIM: 612912 MIM: 191161
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
IFT20 PubMed Links

Gene Details

Gene
IFT20
Gene Name
intraflagellar transport 20
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001267774.1 343 Missense Mutation GAA,GCA E90A NP_001254703.1
NM_001267775.1 343 Missense Mutation GAA,GCA E64A NP_001254704.1
NM_001267776.1 343 Missense Mutation GAA,GCA E64A NP_001254705.1
NM_001267777.1 343 Missense Mutation GAA,GCA E64A NP_001254706.1
NM_001267778.1 343 Missense Mutation GAA,GCA E64A NP_001254707.1
NM_174887.3 343 Missense Mutation GAA,GCA E64A NP_777547.1
Gene
TMEM97
Gene Name
transmembrane protein 97
There are no transcripts associated with this gene.

Gene
TNFAIP1
Gene Name
TNF alpha induced protein 1
There are no transcripts associated with this gene.

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