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TGCTGGGCACCCGCGCGGCCACGCT[C/T]GGTGGCGGCGGCGGTGGCCTGAGGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607357 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
KCNQ5 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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KCNQ5 - potassium voltage-gated channel subfamily Q member 5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001160130.1 | 551 | Silent Mutation | CTC,CTT | L,L 68 | NP_001153602.1 | |
NM_001160132.1 | 551 | Silent Mutation | CTC,CTT | L,L 68 | NP_001153604.1 | |
NM_001160133.1 | 551 | Silent Mutation | CTC,CTT | L,L 68 | NP_001153605.1 | |
NM_001160134.1 | 551 | Silent Mutation | CTC,CTT | L,L 68 | NP_001153606.1 | |
NM_019842.3 | 551 | Silent Mutation | CTC,CTT | L,L 68 | NP_062816.2 | |
XM_017011058.1 | 551 | Silent Mutation | CTC,CTT | L,L 68 | XP_016866547.1 |
KCNQ5-IT1 - KCNQ5 intronic transcript 1 | ||||||
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There are no transcripts associated with this gene. |