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GTGGATGCCACCATGGAGAAACTCC[A/G]GGCACAGTGCCTGTCCCGCGGGGCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 114212 MIM: 603327 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CAPS 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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CAPS - calcyphosine | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_004058.4 | 723 | Missense Mutation | CAG,CGG | Q,R 98 | NP_004049.2 | |
NM_080590.3 | 723 | Missense Mutation | CAG,CGG | Q,R 98 | NP_542157.2 |
RANBP3 - RAN binding protein 3 | ||||||
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There are no transcripts associated with this gene. |
VMAC - vimentin-type intermediate filament associated coiled-coil protein | ||||||
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There are no transcripts associated with this gene. |