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GTCTTTCTCTACCGAGAGGGCTCTG[C/T]CCGCTATGCTTTCTCCTTTTCTGGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
4 submissions
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Phenotype: |
MIM: 600347 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
BCAN 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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BCAN - brevican | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_021948.4 | 833 | Missense Mutation | GCC,GTC | A,V 166 | NP_068767.3 | |
NM_198427.1 | 833 | Missense Mutation | GCC,GTC | A,V 166 | NP_940819.1 | |
XM_011509866.1 | 833 | Missense Mutation | GCC,GTC | A,V 166 | XP_011508168.1 | |
XM_017002047.1 | 833 | Missense Mutation | GCC,GTC | A,V 211 | XP_016857536.1 |