Product Details

SNP ID
rs201658150
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:232879645 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCATGGAGCTGGGGAACCAGCCTCT[C/T]TCCTGGTCGTGCAGACGCTCGCCAA
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
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_206895.1 1228 Intron NP_996778.1
XM_017004080.1 1228 Intron XP_016859569.1
XM_017004081.1 1228 Intron XP_016859570.1
XM_017004082.1 1228 Intron XP_016859571.1
XM_017004083.1 1228 Intron XP_016859572.1
XM_017004084.1 1228 Intron XP_016859573.1
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 1228 Silent Mutation GAA,GAG E567E NP_001107562.1
NM_019850.2 1228 Silent Mutation GAA,GAG E659E NP_062824.2
XM_011510923.2 1228 Silent Mutation GAA,GAG E659E XP_011509225.1
XM_011510924.1 1228 Silent Mutation GAA,GAG E382E XP_011509226.1
XM_011510925.1 1228 Silent Mutation GAA,GAG E382E XP_011509227.1

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