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ACCTGAACTTCCTCCTCATCGGACT[T/G]AACAACGGGGGACTCCCCACCCTCA
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 |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
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 | 1147 | Missense Mutation | AAG,CAG | K,Q 239 | NP_001258596.1 | |
NM_001271668.1 | 1147 | Missense Mutation | AAG,CAG | K,Q 303 | NP_001258597.1 | |
NM_001271669.1 | 1147 | Missense Mutation | AAG,CAG | K,Q 285 | NP_001258598.1 | |
NM_032122.4 | 1147 | Missense Mutation | AAG,CAG | K,Q 320 | NP_115498.2 | |
NM_183040.2 | 1147 | Intron | NP_898861.1 | |||
XM_005249447.4 | 1147 | Missense Mutation | AAG,CAG | K,Q 307 | XP_005249504.1 | |
XM_011514936.2 | 1147 | Missense Mutation | AAG,CAG | K,Q 290 | XP_011513238.1 | |
XM_011514937.2 | 1147 | Missense Mutation | AAG,CAG | K,Q 164 | XP_011513239.1 | |
XM_017011348.1 | 1147 | Missense Mutation | AAG,CAG | K,Q 170 | XP_016866837.1 | |
XM_017011349.1 | 1147 | Missense Mutation | AAG,CAG | K,Q 169 | XP_016866838.1 |
JARID2 - jumonji and AT-rich interaction domain containing 2 | ||||||
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There are no transcripts associated with this gene. |