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GCCCGCCCAGCGTCTGTGACCTGGC[C/T]GTGGAGGTCCTCTTCATCCTTGGTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604527 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
KCNH3 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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KCNH3 - potassium voltage-gated channel subfamily H member 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001314030.1 | 1443 | Silent Mutation | GCC,GCT | A,A 207 | NP_001300959.1 | |
NM_012284.2 | 1443 | Silent Mutation | GCC,GCT | A,A 267 | NP_036416.1 | |
XM_011538085.2 | 1443 | Silent Mutation | GCC,GCT | A,A 267 | XP_011536387.1 | |
XM_011538086.2 | 1443 | Silent Mutation | GCC,GCT | A,A 207 | XP_011536388.1 | |
XM_017019096.1 | 1443 | Silent Mutation | GCC,GCT | A,A 189 | XP_016874585.1 | |
XM_017019097.1 | 1443 | UTR 5 | XP_016874586.1 |