Product Details

SNP ID

hCV58789385

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:66682250 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGCGGCTCGGACGCCAGCGGACAC[C/G]CGGGCGAGGTACGGAGTGGACGGAC

Phenotype

MIM: 609700

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

RABGEF1 PubMed Links

Gene Details

Gene

RABGEF1

Gene Name

RAB guanine nucleotide exchange factor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001287060.1	160	UTR 5			NP_001273989.1
NM_001287061.1	160	Intron			NP_001273990.1
NM_001287062.1	160	Intron			NP_001273991.1
NM_014504.2	160	Intron			NP_055319.1

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