Product Details

SNP ID

rs200332133

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:232882199 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCGGTGACTTACCCAGCAGCCGGGA[A/T]GTGAACGAAACAAACTTGGTCCTCC

Phenotype

MIM: 605991

Polymorphism

A/T, Transversion 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	1075	Silent Mutation	ACA,ACT	T516T	NP_001107562.1
NM_019850.2	1075	Silent Mutation	ACA,ACT	T608T	NP_062824.2
XM_011510923.2	1075	Silent Mutation	ACA,ACT	T608T	XP_011509225.1
XM_011510924.1	1075	Silent Mutation	ACA,ACT	T331T	XP_011509226.1
XM_011510925.1	1075	Silent Mutation	ACA,ACT	T331T	XP_011509227.1

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