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GCTGCGGTGAGCGTGAGACCCGCAC[A/C]CCCGAGGAGCTGGTAAGAAGCCGGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
5 submissions
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Phenotype: |
MIM: 602726 MIM: 607093 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CLCN6 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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CLCN6 - chloride voltage-gated channel 6 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001256959.1 | 242 | Silent Mutation | ACA,ACC | T,T 25 | NP_001243888.1 | |
NM_001286.3 | 242 | Silent Mutation | ACA,ACC | T,T 25 | NP_001277.1 |
MTHFR - methylenetetrahydrofolate reductase (NAD(P)H) | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_005957.4 | 242 | Intron | NP_005948.3 | |||
XM_005263458.3 | 242 | Intron | XP_005263515.1 | |||
XM_005263460.4 | 242 | Intron | XP_005263517.1 | |||
XM_005263462.4 | 242 | Intron | XP_005263519.1 | |||
XM_005263463.3 | 242 | Intron | XP_005263520.1 | |||
XM_011541495.2 | 242 | Intron | XP_011539797.1 | |||
XM_011541496.2 | 242 | Intron | XP_011539798.1 | |||
XM_017001328.1 | 242 | Intron | XP_016856817.1 |