Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GCCGATCAGATCCTGGCTGGGAATG[A/C]GGTGCGGGCGGGGGTCCGGGAGAAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603871 MIM: 612915 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
BYSL 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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BYSL - bystin like | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_004053.3 | 419 | Missense Mutation | GAG,GCG | E,A 28 | NP_004044.3 |
MED20 - mediator complex subunit 20 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001305455.1 | 419 | Intron | NP_001292384.1 | |||
NM_001305456.1 | 419 | Intron | NP_001292385.1 | |||
NM_001305457.1 | 419 | Intron | NP_001292386.1 | |||
NM_004275.4 | 419 | Intron | NP_004266.2 |