Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609855 MIM: 616498 MIM: 602976 MIM: 608665 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
COASY 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
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CEPH (CEU)
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EAS
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African American
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YRI (Yoruba)
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SAS
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Japanese
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JPT (Japanese)
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AFR
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Chinese
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CHB (Han Chinese)
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EUR
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AMR
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COASY - Coenzyme A synthase | ||||||
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There are no transcripts associated with this gene. |
FAM134C - family with sequence similarity 134 member C | ||||||
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There are no transcripts associated with this gene. |
MLX - MLX, MAX dimerization protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_170607.2 | 571 | Missense Mutation | CAG,CGG | Q,R 223 | NP_733752.1 | |
NM_198204.1 | 571 | Missense Mutation | CAG,CGG | Q,R 169 | NP_937847.1 | |
NM_198205.1 | 571 | Missense Mutation | CAG,CGG | Q,R 139 | NP_937848.1 | |
XM_017024991.1 | 571 | Missense Mutation | CAG,CGG | Q,R 193 | XP_016880480.1 |
PSMC3IP - PSMC3 interacting protein | ||||||
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There are no transcripts associated with this gene. |
Set Membership: |
HapMap Validated |