Product Details

SNP ID
rs114251256
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:22870863 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACTTCCAGTTTGGAAATACTGTGAC[G/A]GGATACTCTGACAGACCCTCCTGCT
Phenotype
MIM: 606322 MIM: 608146
Polymorphism
G/A, Transition substitution
Allele Nomenclature
Literature Links
CYFIP1 PubMed Links

Gene Details

Gene
CYFIP1
Gene Name
cytoplasmic FMR1 interacting protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001033028.1 Intron NP_001028200.1
NM_001287810.2 Intron NP_001274739.1
NM_001324119.1 Intron NP_001311048.1
NM_001324120.1 Intron NP_001311049.1
NM_001324122.1 Intron NP_001311051.1
NM_001324123.1 Intron NP_001311052.1
NM_001324124.1 Intron NP_001311053.1
NM_001324125.1 Intron NP_001311054.1
NM_001324126.1 Intron NP_001311055.1
NM_014608.4 Intron NP_055423.1
XM_011543873.2 Intron XP_011542175.1
XM_011543874.1 Intron XP_011542176.1
XM_011543876.2 Intron XP_011542178.2
XM_017022023.1 Intron XP_016877512.1
XM_017022024.1 Intron XP_016877513.1
Gene
NIPA2
Gene Name
non imprinted in Prader-Willi/Angelman syndrome 2
There are no transcripts associated with this gene.

View Full Product Details