Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CCTGGACCTGCCCTGCCTCACTCAG[C/G]GGGTGTTTGGGGAGAAACCAAACTT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 604527 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
KCNH3 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
|||||
AMR
|
KCNH3 - potassium voltage-gated channel subfamily H member 3 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001314030.1 | 1222 | Missense Mutation | CGG,GGG | R,G 134 | NP_001300959.1 | |
NM_012284.2 | 1222 | Missense Mutation | CGG,GGG | R,G 194 | NP_036416.1 | |
XM_011538085.2 | 1222 | Missense Mutation | CGG,GGG | R,G 194 | XP_011536387.1 | |
XM_011538086.2 | 1222 | Missense Mutation | CGG,GGG | R,G 134 | XP_011536388.1 | |
XM_017019096.1 | 1222 | Missense Mutation | CGG,GGG | R,G 116 | XP_016874585.1 | |
XM_017019097.1 | 1222 | UTR 5 | XP_016874586.1 |