Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TTCAAGGCGGCCCGTGGGGTGGGGG[A/G]TCAGGAAAAACATGCGCCCCTGGCC
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 |
---|---|---|
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 |
BYSL - bystin like | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_004053.3 | 371 | Missense Mutation | GAT,GGT | D,G 12 | 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 | 371 | Intron | NP_001292384.1 | |||
NM_001305456.1 | 371 | Intron | NP_001292385.1 | |||
NM_001305457.1 | 371 | Intron | NP_001292386.1 | |||
NM_004275.4 | 371 | Intron | NP_004266.2 |