Product Details

SNP ID

rs183397013

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.20:63276629 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGCAGGAGAAGTACAACAGCAGAG[C/T]CGCGGCCCTCTTTAGGGATAAGGTA

Phenotype

MIM: 608377

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

ARFGAP1 PubMed Links

Additional Information

For this assay, SNP(s) [rs11542296] 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

ARFGAP1

Gene Name

ADP ribosylation factor GTPase activating protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001281482.1	526	Missense Mutation	GCC,GTC	A107V	NP_001268411.1
NM_001281483.1	526	Missense Mutation	GCC,GTC	A54V	NP_001268412.1
NM_001281484.1	526	Missense Mutation	CCG,TCG	P28S	NP_001268413.1
NM_018209.3	526	Missense Mutation	GCC,GTC	A107V	NP_060679.1
NM_175609.2	526	Missense Mutation	GCC,GTC	A107V	NP_783202.1
XM_006723823.2	526	Missense Mutation	GCC,GTC	A107V	XP_006723886.1
XM_011528901.1	526	Missense Mutation	GCC,GTC	A107V	XP_011527203.1
XM_017027950.1	526	Missense Mutation	GCC,GTC	A107V	XP_016883439.1

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