Product Details

SNP ID
rs139723242
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:132410461 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCCATGTTTCAGAACCCTCTCATC[A/G]TCAAGGTGAGCACCCCACGCCCACC
Phenotype
MIM: 600777
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CFAP77 PubMed Links

Gene Details

Gene
CFAP77
Gene Name
cilia and flagella associated protein 77
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001282957.1 419 Missense Mutation ATC,GTC I64V NP_001269886.1
NM_207417.2 419 Missense Mutation ATC,GTC I64V NP_997300.1
XM_011518670.2 419 Missense Mutation ATC,GTC I64V XP_011516972.1
XM_011518671.1 419 Missense Mutation ATC,GTC I64V XP_011516973.1
XM_017014711.1 419 Missense Mutation ATC,GTC I64V XP_016870200.1
Gene
TTF1
Gene Name
transcription termination factor 1
There are no transcripts associated with this gene.

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