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ACCTACCGTGACAGAGGGAGACTCA[A/G]AATTGGTTTTGTAGTTCAGCTCCTT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 600228 MIM: 191190 | ||||||||||||||||||||
Literature Links: |
SCNN1A 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 |
SCNN1A - sodium channel epithelial 1 alpha subunit | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001038.5 | 2051 | Missense Mutation | TCT,TTT | S,F 537 | NP_001029.1 | |
NM_001159575.1 | 2051 | Missense Mutation | TCT,TTT | S,F 560 | NP_001153047.1 | |
NM_001159576.1 | 2051 | Missense Mutation | TCT,TTT | S,F 596 | NP_001153048.1 |
TNFRSF1A - TNF receptor superfamily member 1A | ||||||
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There are no transcripts associated with this gene. |