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GTGGGGCCCCTGTCCCCGCATCCGC[C/T]GAGGCATCCGAGGTGAGAGCCAGGT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
3 submissions
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Phenotype: |
MIM: 602023 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CLCNKB 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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CLCNKB - chloride voltage-gated channel Kb | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000085.4 | 240 | Nonsense Mutation | CGA,TGA | R,* 30 | NP_000076.2 | |
NM_001165945.2 | 240 | Intron | NP_001159417.2 |