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TCATTCTGACAGGTACTGGATTCAG[A/G]CCCTGCAAAATAACGTAGGGAAGAA
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)
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EAS
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African American - Not Available | YRI (Yoruba)
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SAS
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Chinese - Not Available | JPT (Japanese)
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AFR
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Japanese - Not Available | CHB (Han Chinese)
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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 | 1003 | Missense Mutation | CCT,TCT | P,S 191 | NP_001258596.1 | |
NM_001271668.1 | 1003 | Missense Mutation | CCT,TCT | P,S 255 | NP_001258597.1 | |
NM_001271669.1 | 1003 | Missense Mutation | CCT,TCT | P,S 237 | NP_001258598.1 | |
NM_032122.4 | 1003 | Missense Mutation | CCT,TCT | P,S 272 | NP_115498.2 | |
NM_183040.2 | 1003 | Intron | NP_898861.1 | |||
XM_005249447.4 | 1003 | Missense Mutation | CCT,TCT | P,S 259 | XP_005249504.1 | |
XM_011514936.2 | 1003 | Missense Mutation | CCT,TCT | P,S 242 | XP_011513238.1 | |
XM_011514937.2 | 1003 | Missense Mutation | CCT,TCT | P,S 116 | XP_011513239.1 | |
XM_017011348.1 | 1003 | Missense Mutation | CCT,TCT | P,S 122 | XP_016866837.1 | |
XM_017011349.1 | 1003 | Missense Mutation | CCT,TCT | P,S 121 | XP_016866838.1 |
JARID2 - jumonji and AT-rich interaction domain containing 2 | ||||||
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There are no transcripts associated with this gene. |