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CATGTTCTTGATAACTCTTCTCTTT[C/G]TCTTCCATCATCTGCTGATACTTTA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
5 submissions
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Phenotype: |
MIM: 600413 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
GBP3 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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GBP3 - guanylate binding protein 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001319179.1 | 1689 | Missense Mutation | GAC,GAG | D,E 438 | NP_001306108.1 | |
NM_001319180.1 | 1689 | Missense Mutation | GAC,GAG | D,E 383 | NP_001306109.1 | |
NM_001319181.1 | 1689 | Missense Mutation | GAC,GAG | D,E 490 | NP_001306110.1 | |
NM_018284.2 | 1689 | Missense Mutation | GAC,GAG | D,E 517 | NP_060754.2 | |
XM_005270743.2 | 1689 | Missense Mutation | GAC,GAG | D,E 438 | XP_005270800.1 | |
XM_006710574.2 | 1689 | Missense Mutation | GAC,GAG | D,E 490 | XP_006710637.1 | |
XM_011541233.1 | 1689 | Missense Mutation | GAC,GAG | D,E 438 | XP_011539535.1 | |
XM_011541234.1 | 1689 | Missense Mutation | GAC,GAG | D,E 436 | XP_011539536.1 | |
XM_017001013.1 | 1689 | Missense Mutation | GAC,GAG | D,E 383 | XP_016856502.1 | |
XM_017001014.1 | 1689 | Missense Mutation | GAC,GAG | D,E 302 | XP_016856503.1 |