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TCTCTTCCTAGATTGTATCCACCGC[C/G]TGGGACAGGTGGTGAGAAGAAAATT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 118425 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CLCN1 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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CLCN1 - chloride voltage-gated channel 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000083.2 | 261 | Missense Mutation | CTG,GTG | L,V 106 | NP_000074.2 | |
XM_011515782.2 | 261 | Intron | XP_011514084.1 | |||
XM_017011739.1 | 261 | Missense Mutation | CCT,CGT | P,R 8 | XP_016867228.1 | |
XM_017011740.1 | 261 | Missense Mutation | CCT,CGT | P,R 8 | XP_016867229.1 |