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AGCCTGGATGGGACTGTGCTCTAGC[A/G]GACTTCGGGCCTCCCCAGCCTTATC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605716 | ||||||||||||||||||||
Literature Links: |
KCNH5 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 |
KCNH5 - potassium voltage-gated channel subfamily H member 5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_139318.4 | 2506 | Missense Mutation | CCG,CTG | P,L 884 | NP_647479.2 | |
NM_172375.2 | 2506 | UTR 3 | NP_758963.1 |