Product Details

SNP ID

rs111812544

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:48941832 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGAGTAAGGTGTAGAAAATTCATTT[A/C]TTCTCCCGACCCTCTCTTGCTTTTC

Phenotype

MIM: 605371

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

ARFGEF2 PubMed Links

Gene Details

Gene

ARFGEF2

Gene Name

ADP ribosylation factor guanine nucleotide exchange factor 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006420.2		Intron			NP_006411.2
XM_005260252.3		Intron			XP_005260309.1

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