Product Details

SNP ID

rs778369

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.2:232879421 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGTGCTGGCCTGTGCTTCCCAGAG[C/G]CCCCCCCCCCCCACCTTCTGTCGGG

Phenotype

MIM: 605991

Polymorphism

C/G, Transversion Substitution

Allele Nomenclature

Literature Links

C2orf82 PubMed Links

Additional Information

For this assay, SNP(s) [rs570180043] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	1452	Intron			NP_996778.1
XM_017004080.1	1452	Intron			XP_016859569.1
XM_017004081.1	1452	Intron			XP_016859570.1
XM_017004082.1	1452	Intron			XP_016859571.1
XM_017004083.1	1452	Intron			XP_016859572.1
XM_017004084.1	1452	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	1452	UTR 3			NP_001107562.1
NM_019850.2	1452	UTR 3			NP_062824.2
XM_011510923.2	1452	UTR 3			XP_011509225.1
XM_011510924.1	1452	UTR 3			XP_011509226.1
XM_011510925.1	1452	UTR 3			XP_011509227.1

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