Product Details

SNP ID

rs150101127

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:183630622 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAAGAGATGAGCACCTTCAAGACAA[C/T]GCTGCCTGCCCGGTCCTGGTGGGTC

Phenotype

MIM: 604227 MIM: 605667

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ARPC5 PubMed Links

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	514	Missense Mutation	ATT,GTT	I81V	NP_001257368.1
NM_005717.3	514	Missense Mutation	ATT,GTT	I78V	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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