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AGCTTTTGTATCTCATTTTGAAGTT[A/G]GGTACTTTCACCTTGGCATCTCTCC
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 |
---|---|---|
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 |
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 | 1843 | Nonsense Mutation | CAA,TAA | Q,* 490 | NP_001306108.1 | |
NM_001319180.1 | 1843 | Nonsense Mutation | CAA,TAA | Q,* 435 | NP_001306109.1 | |
NM_001319181.1 | 1843 | Intron | NP_001306110.1 | |||
NM_018284.2 | 1843 | Nonsense Mutation | CAA,TAA | Q,* 569 | NP_060754.2 | |
XM_005270743.2 | 1843 | Nonsense Mutation | CAA,TAA | Q,* 490 | XP_005270800.1 | |
XM_006710574.2 | 1843 | Nonsense Mutation | CAA,TAA | Q,* 542 | XP_006710637.1 | |
XM_011541233.1 | 1843 | Nonsense Mutation | CAA,TAA | Q,* 490 | XP_011539535.1 | |
XM_011541234.1 | 1843 | Nonsense Mutation | CAA,TAA | Q,* 488 | XP_011539536.1 | |
XM_017001013.1 | 1843 | Nonsense Mutation | CAA,TAA | Q,* 435 | XP_016856502.1 | |
XM_017001014.1 | 1843 | Nonsense Mutation | CAA,TAA | Q,* 354 | XP_016856503.1 |