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AGCCCATCCCCACAGGTGCCGTGCT[A/G]GTCTGCAGTGTAATCCACAGGGTAG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603033 | ||||||||||||||||||||
Literature Links: |
COLQ 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 |
COLQ - collagen like tail subunit of asymmetric acetylcholinesterase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_005677.3 | 1366 | Nonsense Mutation | CAG,TAG | Q,* 371 | NP_005668.2 | |
NM_080538.2 | 1366 | Nonsense Mutation | CAG,TAG | Q,* 361 | NP_536799.1 | |
NM_080539.3 | 1366 | Nonsense Mutation | CAG,TAG | Q,* 337 | NP_536800.2 |