Product Details
- SNP ID
-
rs145242219
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
12
- Location
-
Chr.1:109751763 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CGCCTCATTCTTCACCAGCCACCAC[C/T]GCTTGCTGTGGTCCAGAACCTGCCA
- Phenotype
-
MIM: 614989
- 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 |
1601 |
Missense Mutation |
CAG,CGG |
Q422R |
NP_001306881.1 |
| NM_024526.3 |
1601 |
Missense Mutation |
CAG,CGG |
Q455R |
NP_078802.2 |
| NM_133181.3 |
1601 |
Missense Mutation |
CAG,CGG |
Q485R |
NP_573444.2 |
| NM_139053.2 |
1601 |
Missense Mutation |
CAG,CGG |
Q486R |
NP_620641.1 |
| XM_011542132.1 |
1601 |
Missense Mutation |
CAG,CGG |
Q494R |
XP_011540434.1 |
| XM_011542133.1 |
1601 |
Missense Mutation |
CAG,CGG |
Q493R |
XP_011540435.1 |
| XM_011542134.2 |
1601 |
Missense Mutation |
CAG,CGG |
Q460R |
XP_011540436.1 |
| XM_011542135.2 |
1601 |
Missense Mutation |
CAG,CGG |
Q430R |
XP_011540437.1 |
| XM_017002327.1 |
1601 |
Missense Mutation |
CAG,CGG |
Q494R |
XP_016857816.1 |
| XM_017002328.1 |
1601 |
Missense Mutation |
CAG,CGG |
Q464R |
XP_016857817.1 |
| XM_017002329.1 |
1601 |
Missense Mutation |
CAG,CGG |
Q456R |
XP_016857818.1 |
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