Product Details
- SNP ID
-
rs377291947
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.11:799959 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GCCGGTCTCGGCATCTCCCAGATTC[A/T]AGGGTGCCAAGGAGAGGCCAGCCCC
- Phenotype
-
MIM: 608213
MIM: 605247
MIM: 180530
MIM: 609302
- Polymorphism
- A/T, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
CEND1
PubMed Links
Gene Details
- Gene
- CEND1
- Gene Name
- cell cycle exit and neuronal differentiation 1
There are no transcripts associated with this gene.
- Gene
- PANO1
- Gene Name
- proapoptotic nucleolar protein 1
- Gene
- PIDD1
- Gene Name
- p53-induced death domain protein 1
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_145886.3 |
3487 |
Nonsense Mutation |
TAG,TTG |
*777L |
NP_665893.2 |
| NM_145887.3 |
3487 |
Nonsense Mutation |
TAG,TTG |
*760L |
NP_665894.2 |
| XM_005253005.4 |
3487 |
Nonsense Mutation |
TAG,TTG |
*801L |
XP_005253062.1 |
| XM_005253006.4 |
3487 |
Nonsense Mutation |
TAG,TTG |
*801L |
XP_005253063.1 |
| XM_005253007.3 |
3487 |
Nonsense Mutation |
TAG,TTG |
*801L |
XP_005253064.1 |
| XM_005253008.4 |
3487 |
Nonsense Mutation |
TAG,TTG |
*655L |
XP_005253065.1 |
| XM_011520209.2 |
3487 |
Nonsense Mutation |
TAG,TTG |
*787L |
XP_011518511.1 |
| XM_011520210.2 |
3487 |
Nonsense Mutation |
TAG,TTG |
*777L |
XP_011518512.1 |
| XM_011520211.2 |
3487 |
Nonsense Mutation |
TAG,TTG |
*760L |
XP_011518513.1 |
| XM_011520212.1 |
3487 |
Nonsense Mutation |
TAG,TTG |
*655L |
XP_011518514.1 |
| XM_011520213.2 |
3487 |
Nonsense Mutation |
TAG,TTG |
*488L |
XP_011518515.1 |
| XM_017017993.1 |
3487 |
Nonsense Mutation |
TAG,TTG |
*464L |
XP_016873482.1 |
- Gene
- RPLP2
- Gene Name
- ribosomal protein lateral stalk subunit P2
There are no transcripts associated with this gene.
- Gene
- SLC25A22
- Gene Name
- solute carrier family 25 member 22
There are no transcripts associated with this gene.
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