Product Details

SNP ID
rs199967566
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.2:232870363 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGGATGGCATCCTGTCTGGCCCTG[C/T]GCATGGCGCTGCTGCTGGTCTCCGG
Phenotype
MIM: 612003 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_206895.1 143 Missense Mutation CGC,TGC R8C NP_996778.1
XM_017004080.1 143 Missense Mutation CGC,TGC R107C XP_016859569.1
XM_017004081.1 143 Missense Mutation CGC,TGC R8C XP_016859570.1
XM_017004082.1 143 Missense Mutation CGC,TGC R8C XP_016859571.1
XM_017004083.1 143 Missense Mutation CGC,TGC R8C XP_016859572.1
XM_017004084.1 143 Missense Mutation CGC,TGC R8C XP_016859573.1
Gene
GIGYF2
Gene Name
GRB10 interacting GYF protein 2
There are no transcripts associated with this gene.

Gene
NGEF
Gene Name
neuronal guanine nucleotide exchange factor
There are no transcripts associated with this gene.

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