Product Details

SNP ID
rs147833836
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:232881230 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCTGCTGAGCCACGTATGGGTGCA[C/T]GCACTGGACCTGGGGGCAGTCTGAG
Phenotype
MIM: 605991
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
C2orf82 PubMed Links

Gene Details

Gene
C2orf82
Gene Name
chromosome 2 open reading frame 82
There are no transcripts associated with this gene.

Gene
NGEF
Gene Name
neuronal guanine nucleotide exchange factor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001114090.1 1109 Missense Mutation ATG,GTG M528V NP_001107562.1
NM_019850.2 1109 Missense Mutation ATG,GTG M620V NP_062824.2
XM_011510923.2 1109 Missense Mutation ATG,GTG M620V XP_011509225.1
XM_011510924.1 1109 Missense Mutation ATG,GTG M343V XP_011509226.1
XM_011510925.1 1109 Missense Mutation ATG,GTG M343V XP_011509227.1

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