Product Details

SNP ID
rs8053782
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.16:87696368 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AATTCCAGGACCAGCAACCTCAGAC[G/T]TACAGGCAGCTGGGGCTTCTCTCCC
Phenotype
MIM: 605268
Polymorphism
G/T, Transversion Substitution
Allele Nomenclature
Literature Links
JPH3 PubMed Links
Additional Information
For this assay, SNP(s) [rs116409000] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene
JPH3
Gene Name
junctophilin 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001271604.2 1975 Intron NP_001258533.1
NM_001271605.1 1975 Intron NP_001258534.1
NM_020655.3 1975 Intron NP_065706.2
XM_017023483.1 1975 Intron XP_016878972.1
XM_017023484.1 1975 Intron XP_016878973.1
Gene
KLHDC4
Gene Name
kelch domain containing 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001184854.1 1975 Intron NP_001171783.1
NM_001184856.1 1975 Intron NP_001171785.1
NM_017566.3 1975 Intron NP_060036.2
XM_005255994.3 1975 Intron XP_005256051.1
XM_005255999.1 1975 Intron XP_005256056.1
XM_006721201.1 1975 Intron XP_006721264.1
XM_006721202.1 1975 Intron XP_006721265.1
XM_006721203.2 1975 Intron XP_006721266.1
XM_006721204.3 1975 UTR 3 XP_006721267.1
XM_017023344.1 1975 Intron XP_016878833.1
XM_017023345.1 1975 Intron XP_016878834.1
Gene
LOC100129215
Gene Name
uncharacterized LOC100129215
There are no transcripts associated with this gene.

Gene
LOC105371397
Gene Name
uncharacterized LOC105371397
There are no transcripts associated with this gene.

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