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GTGCCTTCCCCAAGTCATTAAGTAA[A/G]AGATCTGGCCTCGGCTTGCGTGTAA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 176256 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
KCNC2 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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KCNC2 - potassium voltage-gated channel subfamily C member 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001260497.1 | 2230 | UTR 3 | NP_001247426.1 | |||
NM_001260498.1 | 2230 | Intron | NP_001247427.1 | |||
NM_001260499.1 | 2230 | UTR 3 | NP_001247428.1 | |||
NM_139136.3 | 2230 | Missense Mutation | CTT,TTT | L,F 612 | NP_631874.1 | |
NM_139137.3 | 2230 | UTR 3 | NP_631875.1 | |||
NM_153748.2 | 2230 | Missense Mutation | CTT,TTT | L,F 557 | NP_715624.1 | |
XM_005268855.3 | 2230 | Intron | XP_005268912.1 | |||
XM_006719382.3 | 2230 | Missense Mutation | CTT,TTT | L,F 612 | XP_006719445.1 | |
XM_006719383.3 | 2230 | UTR 3 | XP_006719446.1 | |||
XM_006719384.3 | 2230 | UTR 3 | XP_006719447.1 | |||
XM_006719385.3 | 2230 | UTR 3 | XP_006719448.1 | |||
XM_006719390.3 | 2230 | Intron | XP_006719453.1 | |||
XM_017019282.1 | 2230 | Intron | XP_016874771.1 |