Product Details
- SNP ID
-
rs35072794
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
33
- Location
-
Chr.1:109750688 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CAGCATCCTTCTGACAGCCTCCAGC[C/T]GGGACAGGATTCGTGGGGCCTCCTG
- Phenotype
-
MIM: 614989
MIM: 138390
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
EPS8L3
PubMed Links
Gene Details
- Gene
- EPS8L3
- Gene Name
- EPS8 like 3
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001319952.1 |
1889 |
Missense Mutation |
CAG,CGG |
Q518R |
NP_001306881.1 |
| NM_024526.3 |
1889 |
Missense Mutation |
CAG,CGG |
Q551R |
NP_078802.2 |
| NM_133181.3 |
1889 |
Missense Mutation |
CAG,CGG |
Q581R |
NP_573444.2 |
| NM_139053.2 |
1889 |
Missense Mutation |
CAG,CGG |
Q582R |
NP_620641.1 |
| XM_011542132.1 |
1889 |
Missense Mutation |
CAG,CGG |
Q590R |
XP_011540434.1 |
| XM_011542133.1 |
1889 |
Missense Mutation |
CAG,CGG |
Q589R |
XP_011540435.1 |
| XM_011542134.2 |
1889 |
Missense Mutation |
CAG,CGG |
Q556R |
XP_011540436.1 |
| XM_011542135.2 |
1889 |
Missense Mutation |
CAG,CGG |
Q526R |
XP_011540437.1 |
| XM_017002327.1 |
1889 |
Intron |
|
|
XP_016857816.1 |
| XM_017002328.1 |
1889 |
Missense Mutation |
CAG,CGG |
Q560R |
XP_016857817.1 |
| XM_017002329.1 |
1889 |
Missense Mutation |
CAG,CGG |
Q552R |
XP_016857818.1 |
- Gene
- GSTM3
- Gene Name
- glutathione S-transferase mu 3
There are no transcripts associated with this gene.
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