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GGCTTCAACTTTCTCCATGAGCTCT[C/T]GCAGTTGGGCCTCCTGCTCCTCCCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 616960 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
GIMAP6 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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GIMAP6 - GTPase, IMAP family member 6 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001244071.1 | 894 | UTR 3 | NP_001231000.1 | |||
NM_001244072.1 | 894 | Missense Mutation | CAA,CGA | Q,R 283 | NP_001231001.1 | |
NM_024711.5 | 894 | Missense Mutation | CAA,CGA | Q,R 213 | NP_078987.3 |