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TGAACGCCAAGTCGGCCTGGTTCCA[C/T]GACGTGACGGTGGAGAACAAGCTCA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
14 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 | |||
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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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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 | 500 | Silent Mutation | CAC,CAT | H,H 135 | NP_000806.2 | |
XM_011541194.2 | 500 | Silent Mutation | CAC,CAT | H,H 148 | XP_011539496.1 | |
XM_017000936.1 | 500 | Silent Mutation | CAC,CAT | H,H 370 | XP_016856425.1 |
LOC105378589 - uncharacterized LOC105378589 | ||||||
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There are no transcripts associated with this gene. |