Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
ACCAAAGGGACCCTCGCCGGTGGCC[A/G]AGCGTGGCGGGGGCCCGCACGGGGT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602235 | ||||||||||||||||||||
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 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_004518.5 | 2184 | Missense Mutation | TCG,TTG | S,L 827 | NP_004509.2 | |
NM_172106.2 | 2184 | Missense Mutation | TCG,TTG | S,L 837 | NP_742104.1 | |
NM_172107.3 | 2184 | Missense Mutation | TCG,TTG | S,L 855 | NP_742105.1 | |
NM_172108.4 | 2184 | Missense Mutation | TCG,TTG | S,L 824 | NP_742106.1 | |
NM_172109.2 | 2184 | Intron | NP_742107.1 | |||
XM_011528810.1 | 2184 | Missense Mutation | TCG,TTG | S,L 873 | XP_011527112.1 | |
XM_011528811.1 | 2184 | Missense Mutation | TCG,TTG | S,L 863 | XP_011527113.1 | |
XM_017027841.1 | 2184 | Missense Mutation | TCG,TTG | S,L 872 | XP_016883330.1 | |
XM_017027842.1 | 2184 | Missense Mutation | TCG,TTG | S,L 851 | XP_016883331.1 | |
XM_017027843.1 | 2184 | Missense Mutation | TCG,TTG | S,L 850 | XP_016883332.1 | |
XM_017027844.1 | 2184 | Missense Mutation | TCG,TTG | S,L 836 | XP_016883333.1 | |
XM_017027845.1 | 2184 | Missense Mutation | TCG,TTG | S,L 527 | XP_016883334.1 |
LOC100130152 - uncharacterized LOC100130152 | ||||||
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There are no transcripts associated with this gene. |