Product Details

SNP ID
rs201182007
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:110135382 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTAAAATAGCAAGGCAACTTCGAG[C/T]TGAAAAAGAGAGAGAAGAATATCTT
Phenotype
MIM: 605489
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
IFT81 PubMed Links

Gene Details

Gene
IFT81
Gene Name
intraflagellar transport 81
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001143779.1 881 Missense Mutation GCT,GTT A214V NP_001137251.1
NM_014055.3 881 Missense Mutation GCT,GTT A214V NP_054774.2
NM_031473.3 881 Missense Mutation GCT,GTT A214V NP_113661.2
XM_011538232.2 881 Missense Mutation GCT,GTT A214V XP_011536534.1
XM_017019217.1 881 Missense Mutation GCT,GTT A214V XP_016874706.1
XM_017019218.1 881 UTR 5 XP_016874707.1

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