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TATGTTGCCAGGCAGCCGAATGACA[C/T]CTCAGGGACCTTCCATGGGACCCCC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602866 MIM: 601735 | ||||||||||||||||||||
Literature Links: |
ASIC1 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 |
ASIC1 - acid sensing ion channel subunit 1 | ||||||
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There are no transcripts associated with this gene. |
SMARCD1 - SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_003076.4 | 381 | Missense Mutation | CCT,TCT | P,S 71 | NP_003067.3 | |
NM_139071.2 | 381 | Missense Mutation | CCT,TCT | P,S 71 | NP_620710.2 | |
XM_005269107.3 | 381 | Missense Mutation | CCT,TCT | P,S 71 | XP_005269164.2 | |
XM_011538695.1 | 381 | Missense Mutation | CCT,TCT | P,S 71 | XP_011536997.1 |