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ACACTGATTGTAGGCACCAACCACT[C/T]GCACCACATCACCCAGGCGGCACCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608587 MIM: 602358 MIM: 604528 MIM: 604260 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
GHDC 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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GHDC - GH3 domain containing | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001142623.1 | 1343 | Missense Mutation | CAA,CGA | Q,R 369 | NP_001136095.1 | |
NM_032484.4 | 1343 | Missense Mutation | CAA,CGA | Q,R 369 | NP_115873.1 |
HCRT - hypocretin neuropeptide precursor | ||||||
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There are no transcripts associated with this gene. |
KCNH4 - potassium voltage-gated channel subfamily H member 4 | ||||||
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There are no transcripts associated with this gene. |
STAT5B - signal transducer and activator of transcription 5B | ||||||
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There are no transcripts associated with this gene. |