Product Details
- SNP ID
-
rs1058065
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.2:27364857 on Build GRCh38
- Set Membership
-
HapMap
- Context Sequence [VIC/FAM]
- TCCCTACCCGTGACATCACAGACCC[A/G]TTGGCCAAGAGTGCATGAGCTCCCA
- Phenotype
-
MIM: 606687
MIM: 604883
MIM: 605963
- Polymorphism
- A/G, 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 |
1373 |
Silent Mutation |
AAC,AAT |
N411N |
NP_001029288.1 |
| NM_001318965.1 |
1373 |
Silent Mutation |
AAC,AAT |
N432N |
NP_001305894.1 |
| NM_001318966.1 |
1373 |
Silent Mutation |
AAC,AAT |
N396N |
NP_001305895.1 |
| NM_001318967.1 |
1373 |
Silent Mutation |
AAC,AAT |
N380N |
NP_001305896.1 |
| NM_001318968.1 |
1373 |
Silent Mutation |
AAC,AAT |
N216N |
NP_001305897.1 |
| NM_001318969.1 |
1373 |
Silent Mutation |
AAC,AAT |
N205N |
NP_001305898.1 |
| NM_015636.3 |
1373 |
Silent Mutation |
AAC,AAT |
N410N |
NP_056451.3 |
| NM_172195.3 |
1373 |
Silent Mutation |
AAC,AAT |
N431N |
NP_751945.2 |
| XM_006712132.1 |
1373 |
Silent Mutation |
AAC,AAT |
N395N |
XP_006712195.1 |
| XM_011533147.2 |
1373 |
Silent Mutation |
AAC,AAT |
N205N |
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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