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ATACGAGGCTCTGGCACTGACTCGC[C/T]AATAGACTTGTGGGGCAGCACGCTG
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 615691 MIM: 615320 MIM: 606991 MIM: 614472 | |||||||||||||||||||||||
Literature Links: |
AMIGO3 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 - 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 |
AMIGO3 - adhesion molecule with Ig like domain 3 | ||||||
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There are no transcripts associated with this gene. |
GMPPB - GDP-mannose pyrophosphorylase B | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_013334.3 | 1296 | Missense Mutation | AGC,GGC | S,G 377 | NP_037466.2 | |
NM_021971.2 | 1296 | Missense Mutation | AGC,GGC | S,G 350 | NP_068806.1 |
IP6K1 - inositol hexakisphosphate kinase 1 | ||||||
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There are no transcripts associated with this gene. |
RNF123 - ring finger protein 123 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_022064.4 | 1296 | Intron | NP_071347.2 | |||
XM_006713285.1 | 1296 | Intron | XP_006713348.1 | |||
XM_011533995.1 | 1296 | Intron | XP_011532297.1 | |||
XM_017007018.1 | 1296 | Intron | XP_016862507.1 |