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GGGCAAGTACTGCCCCCTTTTCAGC[C/T]TCTCCCATTGGCCCTGGCCTCTCTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
7 submissions
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Phenotype: |
MIM: 601863 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
GBAT2 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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GBAT2 - glioblastoma multiforme-associated transcript 2 | ||||||
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There are no transcripts associated with this gene. |
RFX5 - regulatory factor X5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000449.3 | 1783 | Silent Mutation | GAA,GAG | E,E 523 | NP_000440.1 | |
NM_001025603.1 | 1783 | Silent Mutation | GAA,GAG | E,E 523 | NP_001020774.1 | |
XM_005245405.1 | 1783 | Silent Mutation | GAA,GAG | E,E 523 | XP_005245462.1 | |
XM_005245406.3 | 1783 | Silent Mutation | GAA,GAG | E,E 523 | XP_005245463.1 | |
XM_011509847.1 | 1783 | Silent Mutation | GAA,GAG | E,E 523 | XP_011508149.1 | |
XM_011509848.1 | 1783 | Silent Mutation | GAA,GAG | E,E 523 | XP_011508150.1 | |
XM_011509849.1 | 1783 | Silent Mutation | GAA,GAG | E,E 523 | XP_011508151.1 | |
XM_011509850.1 | 1783 | Silent Mutation | GAA,GAG | E,E 523 | XP_011508152.1 | |
XM_017001999.1 | 1783 | Silent Mutation | GAA,GAG | E,E 352 | XP_016857488.1 | |
XM_017002000.1 | 1783 | Silent Mutation | GAA,GAG | E,E 352 | XP_016857489.1 |