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CCCCTCAGCAGATCCAGCAGGTCCA[G/T]CAGCAGGCGGTCCAAAATCGAAACC
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 | |||
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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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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 | 506 | Missense Mutation | CAG,CAT | Q,H 112 | NP_003067.3 | |
NM_139071.2 | 506 | Missense Mutation | CAG,CAT | Q,H 112 | NP_620710.2 | |
XM_005269107.3 | 506 | Missense Mutation | CAG,CAT | Q,H 112 | XP_005269164.2 | |
XM_011538695.1 | 506 | Missense Mutation | CAG,CAT | Q,H 112 | XP_011536997.1 |