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- SNP ID:
- rs115986455
- Gene
-
CLCN6MTHFR - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.1: 11806754 - 11806754 on Build GRCh38
- Polymorphism:
- C/T, Transition substitution
- Context Sequence [VIC/FAM]:
CTGGGTCACTGACAGTCCAGCTTCC[C/T]CCTGCAAAGCATCCTGGGAAAACTT
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
9 submissions
|
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Phenotype: |
MIM: 602726
MIM: 607093
|
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Literature Links: |
CLCN6 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
| 1000Genome | Applied Biosystems® | HapMap | |||
|---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
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AMR
|
| CLCN6 - chloride voltage-gated channel 6 | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_001256959.1 | Intron | NP_001243888.1 | ||||
| NM_001286.3 | Intron | NP_001277.1 | ||||
| MTHFR - methylenetetrahydrofolate reductase (NAD(P)H) | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_005957.4 | Intron | NP_005948.3 | ||||
| XM_005263458.3 | Intron | XP_005263515.1 | ||||
| XM_005263460.4 | Intron | XP_005263517.1 | ||||
| XM_005263462.4 | Intron | XP_005263519.1 | ||||
| XM_005263463.3 | Intron | XP_005263520.1 | ||||
| XM_011541495.2 | Intron | XP_011539797.1 | ||||
| XM_011541496.2 | Intron | XP_011539798.1 | ||||
| XM_017001328.1 | Intron | XP_016856817.1 | ||||
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