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TACCTGGTCTTCGGCGCAGTGGTCT[C/T]CTCCTCGGTGGAGCTGCCCTATGAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
3 submissions
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Phenotype: |
MIM: 601745 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
KCNK1 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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KCNK1 - potassium two pore domain channel subfamily K member 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_002245.3 | 290 | Missense Mutation | TCC,TTC | S,F 41 | NP_002236.1 | |
XM_011544184.2 | 290 | Intron | XP_011542486.1 |
MIR4427 - microRNA 4427 | ||||||
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There are no transcripts associated with this gene. |