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CGGTTCCTGAGCCAGGTGCTAGGCC[A/G]GGTGCTGCAGCTGCTGCCGCCAGGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 118491 MIM: 602141 MIM: 604592 | ||||||||||||||||||||
Literature Links: |
CHKA PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
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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 |
CHKA - choline kinase alpha | ||||||
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There are no transcripts associated with this gene. |
MIR6753 - microRNA 6753 | ||||||
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There are no transcripts associated with this gene. |
NDUFS8 - NADH:ubiquinone oxidoreductase core subunit S8 | ||||||
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There are no transcripts associated with this gene. |
TCIRG1 - T-cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_006019.3 | 975 | Missense Mutation | CAG,CGG | Q,R 284 | NP_006010.2 | |
NM_006053.3 | 975 | Missense Mutation | CAG,CGG | Q,R 68 | NP_006044.1 | |
XM_005273709.3 | 975 | Missense Mutation | CAG,CGG | Q,R 284 | XP_005273766.1 | |
XM_011544726.2 | 975 | Missense Mutation | CAG,CGG | Q,R 284 | XP_011543028.1 | |
XM_017017089.1 | 975 | Missense Mutation | CAG,CGG | Q,R 284 | XP_016872578.1 | |
XM_017017090.1 | 975 | UTR 5 | XP_016872579.1 |