Product Details

SNP ID

rs144388879

Assay Type

Functionally Tested

NCBI dbSNP Submissions

5

Location

Chr.1:183630504 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAACATAGCACTGCTATTGTCAGAC[A/G]GGCTCTCAAATCCTTTATAAATATA

Phenotype

MIM: 604227 MIM: 605667

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

ARPC5 PubMed Links

Additional Information

For this assay, SNP(s) [rs2231240] are located under a probe 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

ARPC5

Gene Name

actin related protein 2/3 complex subunit 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001270439.1	632	Missense Mutation	CCG,CTG	P120L	NP_001257368.1
NM_005717.3	632	Missense Mutation	CCG,CTG	P117L	NP_005708.1

Gene

RGL1

Gene Name

ral guanine nucleotide dissociation stimulator like 1

There are no transcripts associated with this gene.

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