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TAGGTGACGTCGGGGTAGATCTCGG[T/C]GCAGCAGTCGTACTTCTTGCTGTTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 118502 MIM: 601212 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CHRNA2 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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CHRNA2 - cholinergic receptor nicotinic alpha 2 subunit | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000742.3 | 1218 | Missense Mutation | ACC,GCC | T,A 249 | NP_000733.2 | |
NM_001282455.1 | 1218 | Missense Mutation | ACC,GCC | T,A 234 | NP_001269384.1 | |
XM_005273397.2 | 1218 | Missense Mutation | ACC,GCC | T,A 90 | XP_005273454.1 | |
XM_006716282.1 | 1218 | Missense Mutation | ACC,GCC | T,A 249 | XP_006716345.1 | |
XM_011544388.1 | 1218 | Missense Mutation | ACC,GCC | T,A 249 | XP_011542690.1 | |
XM_011544389.1 | 1218 | Missense Mutation | ACC,GCC | T,A 51 | XP_011542691.1 | |
XM_017013003.1 | 1218 | Missense Mutation | ACC,GCC | T,A 90 | XP_016868492.1 | |
XM_017013004.1 | 1218 | Missense Mutation | ACC,GCC | T,A 51 | XP_016868493.1 |
PTK2B - protein tyrosine kinase 2 beta | ||||||
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There are no transcripts associated with this gene. |