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CCGTTCATTCTTCTCCTTGCTGTCC[C/T]GCCGAAGGCGCACCTGTCGCACAAT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 600164 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
GEM 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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GEM - GTP binding protein overexpressed in skeletal muscle | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_005261.3 | 1171 | Missense Mutation | CAG,CGG | Q,R 243 | NP_005252.1 | |
NM_181702.2 | 1171 | Missense Mutation | CAG,CGG | Q,R 243 | NP_859053.1 | |
XM_017013315.1 | 1171 | UTR 3 | XP_016868804.1 |