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CTCTGTTTACTCTTCAGTTGCCGCA[C/T]AGCTTGCACCAAACATTGCAATCGT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605358 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
GTF2A1L 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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GTF2A1L - general transcription factor IIA subunit 1 like | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001193487.2 | 2442 | Silent Mutation | CAC,CAT | H,H 38 | NP_001180416.1 | |
NM_006872.4 | 2442 | Silent Mutation | CAC,CAT | H,H 72 | NP_006863.2 |
STON1-GTF2A1L - STON1-GTF2A1L readthrough | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001198593.1 | 2442 | Silent Mutation | CAC,CAT | H,H 776 | NP_001185522.1 | |
NM_001198594.1 | 2442 | Silent Mutation | CAC,CAT | H,H 776 | NP_001185523.1 | |
NM_172311.2 | 2442 | Silent Mutation | CAC,CAT | H,H 776 | NP_758515.1 |