Product Details

SNP ID
rs146550714
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:160401938 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGAGACTGCAAGTGAGGAACTTGAT[A/T]ATAGAAGTTTAGAAGAGATTTTGAA
Phenotype
MIM: 611177 MIM: 605575
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
IFT80 PubMed Links

Gene Details

Gene
IFT80
Gene Name
intraflagellar transport 80
There are no transcripts associated with this gene.

Gene
MIR15B
Gene Name
microRNA 15b
There are no transcripts associated with this gene.

Gene
MIR16-2
Gene Name
microRNA 16-2
There are no transcripts associated with this gene.

Gene
SMC4
Gene Name
structural maintenance of chromosomes 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001002800.2 384 Missense Mutation AAT,TAT N55Y NP_001002800.1
NM_001288753.1 384 Intron NP_001275682.1
NM_005496.3 384 Missense Mutation AAT,TAT N55Y NP_005487.3
XM_006713459.3 384 Missense Mutation AAT,TAT N55Y XP_006713522.1
XM_011512311.2 384 Missense Mutation AAT,TAT N55Y XP_011510613.1
XM_011512312.2 384 UTR 5 XP_011510614.1
XM_017005491.1 384 Intron XP_016860980.1

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