Product Details

SNP ID
rs61739628
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:110128986 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTCAGGGTTTGGTGATTGGAAGTAA[A/C]CCTGTAATTTACCCAGTGCTCCACT
Phenotype
MIM: 605489
Polymorphism
A/C, Transversion 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_001143779.1 525 Missense Mutation AAA,AAC K95N NP_001137251.1
NM_014055.3 525 Missense Mutation AAA,AAC K95N NP_054774.2
NM_031473.3 525 Missense Mutation AAA,AAC K95N NP_113661.2
XM_011538232.2 525 Missense Mutation AAA,AAC K95N XP_011536534.1
XM_017019217.1 525 Missense Mutation AAA,AAC K95N XP_016874706.1
XM_017019218.1 525 UTR 5 XP_016874707.1

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