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Search Thermo Fisher Scientific
GTGATCTTGGCAGCCTCAGCCCTGA[C/T]GAGGGCAATGAGGTCCTGGTTGATA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604527 MIM: 609504 | ||||||||||||||||||||
Literature Links: |
KCNH3 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 |
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 | 1562 | Intron | NP_001300959.1 | |||
NM_012284.2 | 1562 | Intron | NP_036416.1 | |||
XM_011538085.2 | 1562 | Intron | XP_011536387.1 | |||
XM_011538086.2 | 1562 | Intron | XP_011536388.1 | |||
XM_017019096.1 | 1562 | Intron | XP_016874585.1 | |||
XM_017019097.1 | 1562 | Intron | XP_016874586.1 |
MCRS1 - microspherule protein 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001012300.1 | 1562 | Missense Mutation | ATC,GTC | I,V 465 | NP_001012300.1 | |
NM_001278341.1 | 1562 | Missense Mutation | ATC,GTC | I,V 261 | NP_001265270.1 | |
NM_006337.4 | 1562 | Missense Mutation | ATC,GTC | I,V 452 | NP_006328.2 | |
XM_005268572.3 | 1562 | Missense Mutation | ATC,GTC | I,V 452 | XP_005268629.1 | |
XM_011537760.2 | 1562 | Missense Mutation | ATC,GTC | I,V 503 | XP_011536062.1 | |
XM_017018689.1 | 1562 | Missense Mutation | ATC,GTC | I,V 465 | XP_016874178.1 | |
XM_017018690.1 | 1562 | Missense Mutation | ATC,GTC | I,V 465 | XP_016874179.1 |