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TCAGACTCTAAAAATGAAGATGGCT[C/T]GGTCTTTTCACAGACTGAACACAAT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606468 MIM: 605224 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
GAR1 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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GAR1 - GAR1 ribonucleoprotein | ||||||
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There are no transcripts associated with this gene. |
RRH - retinal pigment epithelium-derived rhodopsin homolog | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_006583.2 | 87 | Missense Mutation | TCG,TTG | S,L 18 | NP_006574.1 |