Product Details

SNP ID
rs186027780
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.8:143376631 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGAGCTGGAGGAGCTCAGCGGTGGC[A/G]TGGACCCTGGCCGGCATGGGAGGTG
Phenotype
MIM: 601031
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
RHPN1 PubMed Links
Additional Information
For this assay, SNP(s) [rs3812439] 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
RHPN1
Gene Name
rhophilin Rho GTPase binding protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_052924.2 934 Missense Mutation ATG,GTG M95V NP_443156.2
XM_005250772.3 934 Missense Mutation ATG,GTG M148V XP_005250829.1
XM_005250773.3 934 Missense Mutation ATG,GTG M148V XP_005250830.1
XM_006716502.3 934 Missense Mutation ATG,GTG M148V XP_006716565.1
XM_011516817.2 934 Missense Mutation ATG,GTG M148V XP_011515119.1
XM_011516818.1 934 Missense Mutation ATG,GTG M131V XP_011515120.1
XM_011516819.2 934 Missense Mutation ATG,GTG M95V XP_011515121.1
XM_011516820.2 934 Missense Mutation ATG,GTG M83V XP_011515122.1
XM_011516821.2 934 Missense Mutation ATG,GTG M46V XP_011515123.1
XM_011516822.2 934 Missense Mutation ATG,GTG M46V XP_011515124.1
XM_011516823.2 934 Missense Mutation ATG,GTG M148V XP_011515125.1
XM_017013013.1 934 Intron XP_016868502.1
XM_017013014.1 934 Missense Mutation ATG,GTG M148V XP_016868503.1
XM_017013015.1 934 Missense Mutation ATG,GTG M46V XP_016868504.1
XM_017013016.1 934 Missense Mutation ATG,GTG M148V XP_016868505.1
Gene
RHPN1-AS1
Gene Name
RHPN1 antisense RNA 1 (head to head)
There are no transcripts associated with this gene.

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