Product Details
- SNP ID
-
rs77773377
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.20:63406822 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CGCGTAGCAGCTGTTGAGAGCATCC[A/C]GGTTCTCCTTGGACTGGGAGATGCT
- Phenotype
-
MIM: 602235
- Polymorphism
- A/C, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
KCNQ2
PubMed Links
Gene Details
- Gene
- KCNQ2
- Gene Name
- potassium voltage-gated channel subfamily Q member 2
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_004518.5 |
2061 |
Missense Mutation |
CGG,CTG |
R786L |
NP_004509.2 |
| NM_172106.2 |
2061 |
Missense Mutation |
CGG,CTG |
R796L |
NP_742104.1 |
| NM_172107.3 |
2061 |
Missense Mutation |
CGG,CTG |
R814L |
NP_742105.1 |
| NM_172108.4 |
2061 |
Missense Mutation |
CGG,CTG |
R783L |
NP_742106.1 |
| NM_172109.2 |
2061 |
Intron |
|
|
NP_742107.1 |
| XM_011528810.1 |
2061 |
Missense Mutation |
CGG,CTG |
R832L |
XP_011527112.1 |
| XM_011528811.1 |
2061 |
Missense Mutation |
CGG,CTG |
R822L |
XP_011527113.1 |
| XM_017027841.1 |
2061 |
Missense Mutation |
CGG,CTG |
R831L |
XP_016883330.1 |
| XM_017027842.1 |
2061 |
Missense Mutation |
CGG,CTG |
R810L |
XP_016883331.1 |
| XM_017027843.1 |
2061 |
Missense Mutation |
CGG,CTG |
R809L |
XP_016883332.1 |
| XM_017027844.1 |
2061 |
Missense Mutation |
CGG,CTG |
R795L |
XP_016883333.1 |
| XM_017027845.1 |
2061 |
Missense Mutation |
CGG,CTG |
R486L |
XP_016883334.1 |
- Gene
- LOC100130152
- Gene Name
- uncharacterized LOC100130152
There are no transcripts associated with this gene.
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