Product Details

SNP ID
rs139371579
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:49174811 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GATCTGGAGGCCCGTACATGGACCC[A/G]GCATCCAAGCCTACCCAGCCGTCGG
Phenotype
MIM: 613169
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
C3orf84 PubMed Links

Gene Details

Gene
C3orf84
Gene Name
chromosome 3 open reading frame 84
There are no transcripts associated with this gene.

Gene
CCDC71
Gene Name
coiled-coil domain containing 71
There are no transcripts associated with this gene.

Gene
KLHDC8B
Gene Name
kelch domain containing 8B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_173546.2 1341 Missense Mutation CAG,CGG Q204R NP_775817.1
XM_005264938.2 1341 Missense Mutation CAG,CGG Q211R XP_005264995.1
XM_005264940.4 1341 Missense Mutation CAG,CGG Q77R XP_005264997.1
XM_006713015.2 1341 Missense Mutation CAG,CGG Q221R XP_006713078.1
XM_006713016.2 1341 Missense Mutation CAG,CGG Q214R XP_006713079.1

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