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ACCAAGTCCAGTTCCACAGCTTTAC[A/G]GGCTATATGTGTAGCTGCCATCTGT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
14 submissions
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Phenotype: |
MIM: 189963 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
GTF2B 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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GTF2B - general transcription factor IIB | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001514.5 | 1030 | Missense Mutation | CGT,TGT | R,C 237 | NP_001505.1 | |
XM_011541299.1 | 1030 | Missense Mutation | CGT,TGT | R,C 206 | XP_011539601.1 |