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CCTTACCCGACTATGCTGGAAGTGA[C/G]AGCCCACACCAATTCCAGAAGGAGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608771 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
MED13L 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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MED13L - mediator complex subunit 13 like | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_015335.4 | 6261 | Missense Mutation | TCT,TGT | S,C 2069 | NP_056150.1 | |
XM_011538080.2 | 6261 | Missense Mutation | TCT,TGT | S,C 2081 | XP_011536382.1 | |
XM_011538081.2 | 6261 | Missense Mutation | TCT,TGT | S,C 2080 | XP_011536383.1 | |
XM_011538082.2 | 6261 | Missense Mutation | TCT,TGT | S,C 2071 | XP_011536384.1 | |
XM_017019090.1 | 6261 | Missense Mutation | TCT,TGT | S,C 2068 | XP_016874579.1 |