Product Details
- SNP ID
-
rs202030180
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.15:22870040 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GCAGCGCGTGCCCTCAGCTGCTGGC[G/A]AGGGACTGGTGGATGGGCGGCTGGA
- 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 |
4293 |
Silent Mutation |
CTC,CTT |
L819L |
NP_001028200.1 |
| NM_001287810.2 |
4293 |
Silent Mutation |
CTC,CTT |
L1250L |
NP_001274739.1 |
| NM_001324119.1 |
4293 |
Silent Mutation |
CTC,CTT |
L1284L |
NP_001311048.1 |
| NM_001324120.1 |
4293 |
Silent Mutation |
CTC,CTT |
L1250L |
NP_001311049.1 |
| NM_001324122.1 |
4293 |
Silent Mutation |
CTC,CTT |
L690L |
NP_001311051.1 |
| NM_001324123.1 |
4293 |
Silent Mutation |
CTC,CTT |
L1250L |
NP_001311052.1 |
| NM_001324124.1 |
4293 |
Silent Mutation |
CTC,CTT |
L1220L |
NP_001311053.1 |
| NM_001324125.1 |
4293 |
Silent Mutation |
CTC,CTT |
L1128L |
NP_001311054.1 |
| NM_001324126.1 |
4293 |
Silent Mutation |
CTC,CTT |
L1216L |
NP_001311055.1 |
| NM_014608.4 |
4293 |
Silent Mutation |
CTC,CTT |
L1250L |
NP_055423.1 |
| XM_011543873.2 |
4293 |
Silent Mutation |
CTC,CTT |
L1383L |
XP_011542175.1 |
| XM_011543874.1 |
4293 |
Silent Mutation |
CTC,CTT |
L1383L |
XP_011542176.1 |
| XM_011543876.2 |
4293 |
Silent Mutation |
CTC,CTT |
L1282L |
XP_011542178.2 |
| XM_017022023.1 |
4293 |
Silent Mutation |
CTC,CTT |
L1417L |
XP_016877512.1 |
| XM_017022024.1 |
4293 |
Silent Mutation |
CTC,CTT |
L1383L |
XP_016877513.1 |
- Gene
- NIPA2
- Gene Name
- non imprinted in Prader-Willi/Angelman syndrome 2
There are no transcripts associated with this gene.
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