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- SNP ID:
- rs118192246
- Gene
-
KCNQ2LOC100130152 - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.20: 63406658 - 63406659 on Build GRCh38
- Polymorphism:
- -/GGCCC, Insertion/deletion
- Context Sequence [VIC/FAM]:
GCGCCGCCTCACTTCCTGGGCCC[-/GGCCC]GGCCCAGCCCACGTCACCAAAGG
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602235
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Literature Links: |
KCNQ2 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
| KCNQ2 - potassium voltage-gated channel subfamily Q member 2 | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_004518.5 | 2224 | Amino Acid InDel | GCC,GCGGGCCGG | A,R 840AG | NP_004509.2 | |
| NM_172106.2 | 2224 | Amino Acid InDel | GCC,GCGGGCCGG | A,R 850AG | NP_742104.1 | |
| NM_172107.3 | 2224 | Amino Acid InDel | GCC,GCGGGCCGG | A,R 868AG | NP_742105.1 | |
| NM_172108.4 | 2224 | Amino Acid InDel | GCC,GCGGGCCGG | A,R 837AG | NP_742106.1 | |
| NM_172109.2 | 2224 | Intron | NP_742107.1 | |||
| XM_011528810.1 | 2224 | Amino Acid InDel | GCC,GCGGGCCGG | A,R 886AG | XP_011527112.1 | |
| XM_011528811.1 | 2224 | Amino Acid InDel | GCC,GCGGGCCGG | A,R 876AG | XP_011527113.1 | |
| XM_017027841.1 | 2224 | Amino Acid InDel | GCC,GCGGGCCGG | A,R 885AG | XP_016883330.1 | |
| XM_017027842.1 | 2224 | Amino Acid InDel | GCC,GCGGGCCGG | A,R 864AG | XP_016883331.1 | |
| XM_017027843.1 | 2224 | Amino Acid InDel | GCC,GCGGGCCGG | A,R 863AG | XP_016883332.1 | |
| XM_017027844.1 | 2224 | Amino Acid InDel | GCC,GCGGGCCGG | A,R 849AG | XP_016883333.1 | |
| XM_017027845.1 | 2224 | Amino Acid InDel | GCC,GCGGGCCGG | A,R 540AG | XP_016883334.1 | |
| LOC100130152 - uncharacterized LOC100130152 | ||||||
|---|---|---|---|---|---|---|
| There are no transcripts associated with this gene. | ||||||
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