Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GCCGAGGCTCACACGATGGACTCAC[G/A]GTCCCTGTCCGGAGAAGGGGGGAAG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 600163 | ||||||||||||||||||||
Literature Links: |
SCN5A 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 |
SCN5A - sodium voltage-gated channel alpha subunit 5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000335.4 | 6174 | Missense Mutation | CGT,TGT | R,C 2011 | NP_000326.2 | |
NM_001099404.1 | 6174 | Missense Mutation | CGT,TGT | R,C 2012 | NP_001092874.1 | |
NM_001099405.1 | 6174 | Missense Mutation | CGT,TGT | R,C 1994 | NP_001092875.1 | |
NM_001160160.1 | 6174 | Missense Mutation | CGT,TGT | R,C 1979 | NP_001153632.1 | |
NM_001160161.1 | 6174 | Missense Mutation | CGT,TGT | R,C 1958 | NP_001153633.1 | |
NM_198056.2 | 6174 | Missense Mutation | CGT,TGT | R,C 2012 | NP_932173.1 | |
XM_011533991.2 | 6174 | Missense Mutation | CGT,TGT | R,C 2011 | XP_011532293.1 | |
XM_017007017.1 | 6174 | Missense Mutation | CGT,TGT | R,C 1958 | XP_016862506.1 |