Product Details
- SNP ID
-
rs11540342
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.8:143824343 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GAGGTTTCCATTTGTCTCCCGCTGC[C/T]ACCACTGCCGCCGCCGCCGCCGGCT
- Phenotype
-
MIM: 615563
MIM: 604819
MIM: 607733
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
NRBP2
PubMed Links
Gene Details
- Gene
- NRBP2
- Gene Name
- nuclear receptor binding protein 2
There are no transcripts associated with this gene.
- Gene
- PUF60
- Gene Name
- poly(U) binding splicing factor 60
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001136033.2 |
164 |
UTR 5 |
|
|
NP_001129505.1 |
| NM_001271096.1 |
164 |
Silent Mutation |
GTA,GTG |
V26V |
NP_001258025.1 |
| NM_001271097.1 |
164 |
Intron |
|
|
NP_001258026.1 |
| NM_001271098.1 |
164 |
Silent Mutation |
GTA,GTG |
V26V |
NP_001258027.1 |
| NM_001271099.1 |
164 |
Intron |
|
|
NP_001258028.1 |
| NM_001271100.1 |
164 |
UTR 5 |
|
|
NP_001258029.1 |
| NM_014281.4 |
164 |
Silent Mutation |
GTA,GTG |
V27V |
NP_055096.2 |
| NM_078480.2 |
164 |
Silent Mutation |
GTA,GTG |
V27V |
NP_510965.1 |
| XM_011516929.2 |
164 |
Silent Mutation |
GTA,GTG |
V64V |
XP_011515231.1 |
| XM_011516930.2 |
164 |
Silent Mutation |
GTA,GTG |
V64V |
XP_011515232.1 |
| XM_017013234.1 |
164 |
Silent Mutation |
GTA,GTG |
V64V |
XP_016868723.1 |
| XM_017013235.1 |
164 |
Silent Mutation |
GTA,GTG |
V52V |
XP_016868724.1 |
| XM_017013236.1 |
164 |
Silent Mutation |
GTA,GTG |
V64V |
XP_016868725.1 |
| XM_017013237.1 |
164 |
Silent Mutation |
GTA,GTG |
V64V |
XP_016868726.1 |
| XM_017013238.1 |
164 |
Silent Mutation |
GTA,GTG |
V64V |
XP_016868727.1 |
| XM_017013239.1 |
164 |
UTR 5 |
|
|
XP_016868728.1 |
| XM_017013240.1 |
164 |
UTR 5 |
|
|
XP_016868729.1 |
- Gene
- SCRIB
- Gene Name
- scribbled planar cell polarity protein
There are no transcripts associated with this gene.
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