Product Details
- SNP ID
-
rs142557456
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.18:79904150 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GCAGGAAGTAGGCCGTCTTGAAGGC[A/G]TCACCACTGGTCCACATGAGCACCA
- Phenotype
-
MIM: 605696
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
KCNG2
PubMed Links
Gene Details
- Gene
- KCNG2
- Gene Name
- potassium voltage-gated channel modifier subfamily G member 2
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_012283.1 |
684 |
Intron |
|
|
NP_036415.1 |
- Gene
- PQLC1
- Gene Name
- PQ loop repeat containing 1
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001146343.1 |
684 |
Missense Mutation |
ACG,ATG |
T124M |
NP_001139815.1 |
| NM_001146345.1 |
684 |
Silent Mutation |
GAC,GAT |
D196D |
NP_001139817.1 |
| NM_025078.4 |
684 |
Silent Mutation |
GAC,GAT |
D214D |
NP_079354.2 |
| XM_005266770.2 |
684 |
Missense Mutation |
ACG,ATG |
T142M |
XP_005266827.1 |
| XM_011526188.1 |
684 |
Silent Mutation |
GAC,GAT |
D96D |
XP_011524490.1 |
| XM_017025997.1 |
684 |
Silent Mutation |
GAC,GAT |
D239D |
XP_016881486.1 |
| XM_017025998.1 |
684 |
Silent Mutation |
GAC,GAT |
D221D |
XP_016881487.1 |
| XM_017025999.1 |
684 |
Intron |
|
|
XP_016881488.1 |
| XM_017026000.1 |
684 |
Intron |
|
|
XP_016881489.1 |
| XM_017026001.1 |
684 |
Silent Mutation |
GAC,GAT |
D133D |
XP_016881490.1 |
| XM_017026002.1 |
684 |
Intron |
|
|
XP_016881491.1 |
| XM_017026003.1 |
684 |
Missense Mutation |
ACG,ATG |
T167M |
XP_016881492.1 |
| XM_017026004.1 |
684 |
Missense Mutation |
ACG,ATG |
T149M |
XP_016881493.1 |
| XM_017026005.1 |
684 |
Silent Mutation |
GAC,GAT |
D96D |
XP_016881494.1 |
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