Product Details

SNP ID
rs200165888
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:157342907 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTATAGCGGGTGGGTCACCACCCCC[A/C]CTCTGTAAGGCACCCGCATCAGGGG
Phenotype
MIM: 606323
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
CYFIP2 PubMed Links

Gene Details

Gene
CYFIP2
Gene Name
cytoplasmic FMR1 interacting protein 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001037333.2 818 Intron NP_001032410.1
NM_001291721.1 818 Intron NP_001278650.1
NM_001291722.1 818 Intron NP_001278651.1
NM_014376.3 818 Intron NP_055191.2
XM_011534516.2 818 Intron XP_011532818.1
XM_017009341.1 818 Intron XP_016864830.1
XM_017009342.1 818 Intron XP_016864831.1
Gene
FNDC9
Gene Name
fibronectin type III domain containing 9
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001001343.3 818 Silent Mutation AGA,AGC R210S NP_001001343.2

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