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TTCTGGAGTGGAGTTCCCATTTAGT[G/T]TGTCAATAATCATGTCTTGTTTTAT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 182391 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SCN3A 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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SCN3A - sodium voltage-gated channel alpha subunit 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001081676.1 | 6458 | Missense Mutation | AAA,ACA | K,T 1899 | NP_001075145.1 | |
NM_001081677.1 | 6458 | Missense Mutation | AAA,ACA | K,T 1899 | NP_001075146.1 | |
NM_006922.3 | 6458 | Missense Mutation | AAA,ACA | K,T 1948 | NP_008853.3 | |
XM_011511610.2 | 6458 | Missense Mutation | AAA,ACA | K,T 1948 | XP_011509912.1 | |
XM_011511613.2 | 6458 | Missense Mutation | AAA,ACA | K,T 1318 | XP_011509915.1 | |
XM_017004660.1 | 6458 | Missense Mutation | AAA,ACA | K,T 1948 | XP_016860149.1 | |
XM_017004661.1 | 6458 | Missense Mutation | AAA,ACA | K,T 1931 | XP_016860150.1 | |
XM_017004662.1 | 6458 | Missense Mutation | AAA,ACA | K,T 1902 | XP_016860151.1 | |
XM_017004663.1 | 6458 | Missense Mutation | AAA,ACA | K,T 1318 | XP_016860152.1 | |
XM_017004664.1 | 6458 | Intron | XP_016860153.1 | |||
XM_017004665.1 | 6458 | Intron | XP_016860154.1 | |||
XM_017004666.1 | 6458 | Intron | XP_016860155.1 |