Product Details
- SNP ID
-
rs199832969
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.3:68977736 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- ATCGAAAGAGTAGTTGGTGAACTTC[A/G]GGTGCTCCCCCAGGGTTGGATGGTG
- Phenotype
-
MIM: 614789
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
EOGT
PubMed Links
Gene Details
- Gene
- EOGT
- Gene Name
- EGF domain specific O-linked N-acetylglucosamine transferase
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001278689.1 |
2017 |
Missense Mutation |
CCG,CTG |
P489L |
NP_001265618.1 |
| NM_173654.2 |
2017 |
Missense Mutation |
CCG,CTG |
P405L |
NP_775925.1 |
| XM_005264743.2 |
2017 |
Missense Mutation |
CCG,CTG |
P489L |
XP_005264800.1 |
| XM_011533599.1 |
2017 |
Missense Mutation |
CCG,CTG |
P507L |
XP_011531901.1 |
| XM_011533600.1 |
2017 |
Missense Mutation |
CCG,CTG |
P507L |
XP_011531902.1 |
| XM_011533602.1 |
2017 |
Missense Mutation |
CCG,CTG |
P507L |
XP_011531904.1 |
| XM_011533603.1 |
2017 |
Missense Mutation |
CCG,CTG |
P506L |
XP_011531905.1 |
| XM_017006204.1 |
2017 |
Missense Mutation |
CCG,CTG |
P506L |
XP_016861693.1 |
| XM_017006205.1 |
2017 |
Missense Mutation |
CCG,CTG |
P489L |
XP_016861694.1 |
| XM_017006206.1 |
2017 |
Missense Mutation |
CCG,CTG |
P489L |
XP_016861695.1 |
| XM_017006207.1 |
2017 |
Intron |
|
|
XP_016861696.1 |
| XM_017006208.1 |
2017 |
Intron |
|
|
XP_016861697.1 |
| XM_017006209.1 |
2017 |
Missense Mutation |
CCG,CTG |
P214L |
XP_016861698.1 |
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