Product Details
- SNP ID
-
rs144016401
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.2:27366909 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- ACCGCCGGCCCTCTGTCCAAGCCTC[C/T]TGAAGAATTCGTGATACCAGAGATG
- Phenotype
-
MIM: 606687
MIM: 604883
MIM: 605963
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
EIF2B4
PubMed Links
Gene Details
- Gene
- EIF2B4
- Gene Name
- eukaryotic translation initiation factor 2B subunit delta
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001034116.1 |
1181 |
Silent Mutation |
CAA,CAG |
Q347Q |
NP_001029288.1 |
| NM_001318965.1 |
1181 |
Silent Mutation |
CAA,CAG |
Q368Q |
NP_001305894.1 |
| NM_001318966.1 |
1181 |
Silent Mutation |
CAA,CAG |
Q332Q |
NP_001305895.1 |
| NM_001318967.1 |
1181 |
Silent Mutation |
CAA,CAG |
Q316Q |
NP_001305896.1 |
| NM_001318968.1 |
1181 |
Silent Mutation |
CAA,CAG |
Q152Q |
NP_001305897.1 |
| NM_001318969.1 |
1181 |
Silent Mutation |
CAA,CAG |
Q141Q |
NP_001305898.1 |
| NM_015636.3 |
1181 |
Silent Mutation |
CAA,CAG |
Q346Q |
NP_056451.3 |
| NM_172195.3 |
1181 |
Silent Mutation |
CAA,CAG |
Q367Q |
NP_751945.2 |
| XM_006712132.1 |
1181 |
Silent Mutation |
CAA,CAG |
Q331Q |
XP_006712195.1 |
| XM_011533147.2 |
1181 |
Silent Mutation |
CAA,CAG |
Q141Q |
XP_011531449.1 |
- Gene
- GTF3C2
- Gene Name
- general transcription factor IIIC subunit 2
There are no transcripts associated with this gene.
- Gene
- LOC105374363
- Gene Name
- uncharacterized LOC105374363
There are no transcripts associated with this gene.
- Gene
- SNX17
- Gene Name
- sorting nexin 17
There are no transcripts associated with this gene.
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