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TCCCCTTGGGGAACCTATCATTACC[C/T]TGGAGAAGGAGGAGTGGAGGCCCAA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604296 MIM: 616590 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
GRHPR 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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GRHPR - glyoxylate reductase/hydroxypyruvate reductase | ||||||
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There are no transcripts associated with this gene. |
ZBTB5 - zinc finger and BTB domain containing 5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_014872.2 | 1756 | Missense Mutation | AAG,AGG | K,R 519 | NP_055687.1 | |
XM_005251634.1 | 1756 | Missense Mutation | AAG,AGG | K,R 519 | XP_005251691.1 |