Product Details

SNP ID
rs61996339
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:160402813 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TATTAATACATAATTCTGATGAACA[C/G]AAGGACATTCAGAGTTGTACAGTAG
Phenotype
MIM: 611177 MIM: 605575
Polymorphism
C/G, 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_001002800.2 677 Missense Mutation CAC,CAG H152Q NP_001002800.1
NM_001288753.1 677 Missense Mutation CAC,CAG H127Q NP_001275682.1
NM_005496.3 677 Missense Mutation CAC,CAG H152Q NP_005487.3
XM_006713459.3 677 Missense Mutation CAC,CAG H152Q XP_006713522.1
XM_011512311.2 677 Missense Mutation CAC,CAG H152Q XP_011510613.1
XM_011512312.2 677 Missense Mutation CAC,CAG H80Q XP_011510614.1
XM_017005491.1 677 UTR 5 XP_016860980.1

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