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GAGGAAGAAGAAGGTGGCTTGGCTC[C/T]TAATTCTGAGGGATTTGGAACCTGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607145 MIM: 601594 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
DTNBP1 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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DTNBP1 - dystrobrevin binding protein 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001271667.1 | 1063 | Missense Mutation | AGA,GGA | R,G 211 | NP_001258596.1 | |
NM_001271668.1 | 1063 | Missense Mutation | AGA,GGA | R,G 275 | NP_001258597.1 | |
NM_001271669.1 | 1063 | Missense Mutation | AGA,GGA | R,G 257 | NP_001258598.1 | |
NM_032122.4 | 1063 | Missense Mutation | AGA,GGA | R,G 292 | NP_115498.2 | |
NM_183040.2 | 1063 | Intron | NP_898861.1 | |||
XM_005249447.4 | 1063 | Missense Mutation | AGA,GGA | R,G 279 | XP_005249504.1 | |
XM_011514936.2 | 1063 | Missense Mutation | AGA,GGA | R,G 262 | XP_011513238.1 | |
XM_011514937.2 | 1063 | Missense Mutation | AGA,GGA | R,G 136 | XP_011513239.1 | |
XM_017011348.1 | 1063 | Missense Mutation | AGA,GGA | R,G 142 | XP_016866837.1 | |
XM_017011349.1 | 1063 | Missense Mutation | AGA,GGA | R,G 141 | XP_016866838.1 |
JARID2 - jumonji and AT-rich interaction domain containing 2 | ||||||
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There are no transcripts associated with this gene. |