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ACCTGGACGGGCTGATAGCCGGCTA[C/T]GCCCGCAACTTCCGGCCTGGCATCG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
3 submissions
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Phenotype: |
MIM: 137163 | ||||||||||||||||||||
Literature Links: |
GABRD 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 |
GABRD - gamma-aminobutyric acid type A receptor delta subunit | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000815.4 | 248 | Silent Mutation | TAC,TAT | Y,Y 51 | NP_000806.2 | |
XM_011541194.2 | 248 | Silent Mutation | TAC,TAT | Y,Y 64 | XP_011539496.1 | |
XM_017000936.1 | 248 | Silent Mutation | TAC,TAT | Y,Y 286 | XP_016856425.1 |
LOC105378589 - uncharacterized LOC105378589 | ||||||
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There are no transcripts associated with this gene. |