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ATTAGATCTGGCTTTGAATAGGTGA[A/C]TTTTCCTTAGCTTTGTCAAAATAGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 182392 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SCN7A 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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SCN7A - sodium voltage-gated channel alpha subunit 7 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_002976.3 | 5449 | Missense Mutation | AAG,AAT | K,N 1675 | NP_002967.2 | |
XM_006712680.2 | 5449 | Missense Mutation | AAG,AAT | K,N 1675 | XP_006712743.1 | |
XM_006712681.3 | 5449 | Missense Mutation | AAG,AAT | K,N 1675 | XP_006712744.1 | |
XM_006712682.3 | 5449 | Missense Mutation | AAG,AAT | K,N 1675 | XP_006712745.1 | |
XM_011511615.2 | 5449 | Missense Mutation | AAG,AAT | K,N 1675 | XP_011509917.1 | |
XM_017004667.1 | 5449 | Missense Mutation | AAG,AAT | K,N 1675 | XP_016860156.1 |