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ATGCAAGATGGCGGCCCATCACCGG[C/G]AGAACACAGCAGGGCGGAGGAAAGT
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 604385 MIM: 612167 | |||||||||||||||||||||||
Literature Links: |
SCN11A PubMed Links | |||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR - Not Available | |||||
AMR - Not Available |
SCN11A - sodium voltage-gated channel alpha subunit 11 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001287223.1 | 59 | Intron | NP_001274152.1 | |||
NM_014139.2 | 59 | Intron | NP_054858.2 | |||
XM_011533321.2 | 59 | Intron | XP_011531623.1 | |||
XM_017005647.1 | 59 | Intron | XP_016861136.1 | |||
XM_017005648.1 | 59 | Intron | XP_016861137.1 | |||
XM_017005649.1 | 59 | Intron | XP_016861138.1 | |||
XM_017005650.1 | 59 | Intron | XP_016861139.1 | |||
XM_017005651.1 | 59 | Intron | XP_016861140.1 | |||
XM_017005652.1 | 59 | Intron | XP_016861141.1 | |||
XM_017005653.1 | 59 | Intron | XP_016861142.1 |
WDR48 - WD repeat domain 48 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001303402.1 | 59 | UTR 5 | NP_001290331.1 | |||
NM_001303403.1 | 59 | Missense Mutation | CAG,GAG | Q,E 7 | NP_001290332.1 | |
NM_020839.3 | 59 | Missense Mutation | CAG,GAG | Q,E 7 | NP_065890.1 | |
XM_005265346.3 | 59 | Missense Mutation | CAG,GAG | Q,E 7 | XP_005265403.1 | |
XM_011533971.1 | 59 | Intron | XP_011532273.1 | |||
XM_017006960.1 | 59 | Intron | XP_016862449.1 |