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GCCAAGGGCGCAGATTCTTTCTGTA[C/T]GGTGAGTGTGGCCCCCAGGTCGCCA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611741 MIM: 123831 MIM: 109280 | ||||||||||||||||||||
Literature Links: |
ASIC3 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
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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 |
ASIC3 - acid sensing ion channel subunit 3 | ||||||
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There are no transcripts associated with this gene. |
CDK5 - cyclin dependent kinase 5 | ||||||
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There are no transcripts associated with this gene. |
SLC4A2 - solute carrier family 4 member 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001199692.1 | 1090 | Missense Mutation | ACG,ATG | T,M 17 | NP_001186621.1 | |
NM_001199693.1 | 1090 | Intron | NP_001186622.1 | |||
NM_001199694.1 | 1090 | Intron | NP_001186623.1 | |||
NM_003040.3 | 1090 | Missense Mutation | ACG,ATG | T,M 17 | NP_003031.3 | |
XM_006716094.3 | 1090 | Missense Mutation | ACG,ATG | T,M 17 | XP_006716157.1 |