Product Details
- SNP ID
-
rs149369794
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.11:124767259 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CCTGCGGAAAGAAAATCCCTCTCTA[C/T]TTCTACAAATTTGATGTAGATGGAT
- Phenotype
-
MIM: 614281
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
ESAM
PubMed Links
Gene Details
- Gene
- ESAM
- Gene Name
- endothelial cell adhesion molecule
There are no transcripts associated with this gene.
- Gene
- LOC101929340
- Gene Name
- uncharacterized LOC101929340
There are no transcripts associated with this gene.
- Gene
- MSANTD2
- Gene Name
- Myb/SANT DNA binding domain containing 2
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001308027.1 |
2990 |
Missense Mutation |
ATA,GTA |
I533V |
NP_001294956.1 |
| NM_001312919.1 |
2990 |
UTR 3 |
|
|
NP_001299848.1 |
| NM_001312920.1 |
2990 |
Missense Mutation |
ATA,GTA |
I303V |
NP_001299849.1 |
| NM_001312921.1 |
2990 |
Missense Mutation |
ATA,GTA |
I303V |
NP_001299850.1 |
| NM_024631.3 |
2990 |
Missense Mutation |
ATA,GTA |
I481V |
NP_078907.2 |
| XM_005271674.3 |
2990 |
Intron |
|
|
XP_005271731.3 |
| XM_006718905.1 |
2990 |
Missense Mutation |
ATA,GTA |
I303V |
XP_006718968.1 |
| XM_006718906.3 |
2990 |
Missense Mutation |
ATA,GTA |
I303V |
XP_006718969.1 |
| XM_011542981.2 |
2990 |
Intron |
|
|
XP_011541283.2 |
| XM_011542982.2 |
2990 |
Intron |
|
|
XP_011541284.2 |
| XM_017018295.1 |
2990 |
Missense Mutation |
ATA,GTA |
I303V |
XP_016873784.1 |
| XM_017018296.1 |
2990 |
Missense Mutation |
ATA,GTA |
I303V |
XP_016873785.1 |
| XM_017018297.1 |
2990 |
Missense Mutation |
ATA,GTA |
I303V |
XP_016873786.1 |
| XM_017018298.1 |
2990 |
Missense Mutation |
ATA,GTA |
I303V |
XP_016873787.1 |
| XM_017018299.1 |
2990 |
Intron |
|
|
XP_016873788.1 |
| XM_017018300.1 |
2990 |
Intron |
|
|
XP_016873789.1 |
| XM_017018301.1 |
2990 |
Intron |
|
|
XP_016873790.1 |
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