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ACTGGGTGAGCAGGGCCTCGAACAC[A/G]GCTTGGAGGCGGGAGGGCTCAGGCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611621 MIM: 601313 MIM: 191092 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
LOC105371049 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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LOC105371049 - uncharacterized LOC105371049 | ||||||
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There are no transcripts associated with this gene. |
MIR1225 - microRNA 1225 | ||||||
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There are no transcripts associated with this gene. |
PKD1 - polycystin 1, transient receptor potential channel interacting | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000296.3 | 12885 | Silent Mutation | GCC,GCT | A,A 4216 | NP_000287.3 | |
NM_001009944.2 | 12885 | Silent Mutation | GCC,GCT | A,A 4217 | NP_001009944.2 | |
XM_005255370.3 | 12885 | Silent Mutation | GCC,GCT | A,A 3202 | XP_005255427.1 | |
XM_011522528.2 | 12885 | Silent Mutation | GCC,GCT | A,A 4235 | XP_011520830.1 | |
XM_011522529.2 | 12885 | Silent Mutation | GCC,GCT | A,A 4234 | XP_011520831.1 | |
XM_011522530.2 | 12885 | Silent Mutation | GCC,GCT | A,A 4225 | XP_011520832.1 | |
XM_011522532.2 | 12885 | Silent Mutation | GCC,GCT | A,A 4201 | XP_011520834.1 | |
XM_011522534.2 | 12885 | Silent Mutation | GCC,GCT | A,A 4155 | XP_011520836.1 | |
XM_011522535.2 | 12885 | Silent Mutation | GCC,GCT | A,A 3517 | XP_011520837.1 | |
XM_011522537.2 | 12885 | Silent Mutation | GCC,GCT | A,A 3243 | XP_011520839.1 | |
XM_017023285.1 | 12885 | Silent Mutation | GCC,GCT | A,A 3241 | XP_016878774.1 |
TSC2 - tuberous sclerosis 2 | ||||||
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There are no transcripts associated with this gene. |