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ATTTATTCTGTCAATTATCATGTCT[T/C]CTTTTATAAGAAGATTAGCCCCACC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 182389 | ||||||||||||||||||||
Literature Links: |
LOC102724058 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | 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 |
LOC102724058 - uncharacterized LOC102724058 | ||||||
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There are no transcripts associated with this gene. |
SCN1A - sodium voltage-gated channel alpha subunit 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001165963.1 | 6075 | Missense Mutation | GAA,GGA | E,G 1957 | NP_001159435.1 | |
NM_001165964.1 | 6075 | Missense Mutation | GAA,GGA | E,G 1929 | NP_001159436.1 | |
NM_001202435.1 | 6075 | Missense Mutation | GAA,GGA | E,G 1957 | NP_001189364.1 | |
NM_006920.4 | 6075 | Missense Mutation | GAA,GGA | E,G 1946 | NP_008851.3 | |
XM_011511602.2 | 6075 | Missense Mutation | GAA,GGA | E,G 1957 | XP_011509904.1 | |
XM_011511604.2 | 6075 | Missense Mutation | GAA,GGA | E,G 1946 | XP_011509906.1 | |
XM_011511605.2 | 6075 | Missense Mutation | GAA,GGA | E,G 1945 | XP_011509907.1 | |
XM_011511606.2 | 6075 | Missense Mutation | GAA,GGA | E,G 1929 | XP_011509908.1 | |
XM_017004644.1 | 6075 | Missense Mutation | GAA,GGA | E,G 1957 | XP_016860133.1 | |
XM_017004645.1 | 6075 | Missense Mutation | GAA,GGA | E,G 1946 | XP_016860134.1 | |
XM_017004646.1 | 6075 | Missense Mutation | GAA,GGA | E,G 1946 | XP_016860135.1 | |
XM_017004647.1 | 6075 | Missense Mutation | GAA,GGA | E,G 1946 | XP_016860136.1 | |
XM_017004648.1 | 6075 | Missense Mutation | GAA,GGA | E,G 1946 | XP_016860137.1 | |
XM_017004649.1 | 6075 | Missense Mutation | GAA,GGA | E,G 1946 | XP_016860138.1 | |
XM_017004650.1 | 6075 | Missense Mutation | GAA,GGA | E,G 1945 | XP_016860139.1 | |
XM_017004651.1 | 6075 | Missense Mutation | GAA,GGA | E,G 1929 | XP_016860140.1 | |
XM_017004652.1 | 6075 | Missense Mutation | GAA,GGA | E,G 1929 | XP_016860141.1 | |
XM_017004653.1 | 6075 | Missense Mutation | GAA,GGA | E,G 1928 | XP_016860142.1 | |
XM_017004654.1 | 6075 | Missense Mutation | GAA,GGA | E,G 1143 | XP_016860143.1 |