Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CCCCACTAACTGCCCGGGTCCGAGC[T/C]GTGTCTGTGCAGGGGCTGGGAGGTG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 152427 | ||||||||||||||||||||
Literature Links: |
KCNH2 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 |
KCNH2 - potassium voltage-gated channel subfamily H member 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000238.3 | 3272 | Missense Mutation | AGC,GGC | S,G 1154 | NP_000229.1 | |
NM_001204798.1 | 3272 | Intron | NP_001191727.1 | |||
NM_172056.2 | 3272 | Intron | NP_742053.1 | |||
NM_172057.2 | 3272 | Missense Mutation | AGC,GGC | S,G 814 | NP_742054.1 | |
XM_011516185.2 | 3272 | Missense Mutation | AGC,GGC | S,G 1054 | XP_011514487.1 | |
XM_011516186.2 | 3272 | Intron | XP_011514488.1 | |||
XM_017012195.1 | 3272 | Missense Mutation | AGC,GGC | S,G 1104 | XP_016867684.1 | |
XM_017012196.1 | 3272 | Missense Mutation | AGC,GGC | S,G 1095 | XP_016867685.1 |