Product Details

SNP ID

rs191647065

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.8:143375553 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGATCGCCTGTGGCCTCCCTGCAG[C/G]GCTGTGACTCCCTGACGCAGATCCA

Phenotype

MIM: 601031

Polymorphism

C/G, Transversion Substitution

Allele Nomenclature

Literature Links

RHPN1 PubMed Links

Additional Information

For this assay, SNP(s) [rs34876718] 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	712	Missense Mutation	CGC,GGC	R21G	NP_443156.2
XM_005250772.3	712	Missense Mutation	CGC,GGC	R74G	XP_005250829.1
XM_005250773.3	712	Missense Mutation	CGC,GGC	R74G	XP_005250830.1
XM_006716502.3	712	Missense Mutation	CGC,GGC	R74G	XP_006716565.1
XM_011516817.2	712	Missense Mutation	CGC,GGC	R74G	XP_011515119.1
XM_011516818.1	712	Missense Mutation	CGC,GGC	R57G	XP_011515120.1
XM_011516819.2	712	Missense Mutation	CGC,GGC	R21G	XP_011515121.1
XM_011516820.2	712	Missense Mutation	CGC,GGC	R9G	XP_011515122.1
XM_011516821.2	712	UTR 5			XP_011515123.1
XM_011516822.2	712	UTR 5			XP_011515124.1
XM_011516823.2	712	Missense Mutation	CGC,GGC	R74G	XP_011515125.1
XM_017013013.1	712	Missense Mutation	CGC,GGC	R74G	XP_016868502.1
XM_017013014.1	712	Missense Mutation	CGC,GGC	R74G	XP_016868503.1
XM_017013015.1	712	UTR 5			XP_016868504.1
XM_017013016.1	712	Missense Mutation	CGC,GGC	R74G	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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