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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