Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CTGGCTGTGAGCTTGGGGGTTTATG[C/T]GTAAGTGACTGGCAGATGGTTCTCA
Species: |
Human | |||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
|||||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 607145 MIM: 601594 | |||||||||||||||||||||||||||||||||||||||||
Literature Links: |
DTNBP1 PubMed Links | |||||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
||||||||||||||||||||||||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | ||||||
---|---|---|---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | ||||||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | ||||||
SAS
|
Chinese - Not Available | CHB (Han Chinese)
|
||||||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | ||||||
EUR
|
||||||||
AMR
|
DTNBP1 - dystrobrevin binding protein 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001271667.1 | 1096 | Intron | NP_001258596.1 | |||
NM_001271668.1 | 1096 | Intron | NP_001258597.1 | |||
NM_001271669.1 | 1096 | Intron | NP_001258598.1 | |||
NM_032122.4 | 1096 | Intron | NP_115498.2 | |||
NM_183040.2 | 1096 | Missense Mutation | ACA,GCA | T,A 303 | NP_898861.1 | |
XM_005249447.4 | 1096 | Intron | XP_005249504.1 | |||
XM_011514936.2 | 1096 | Intron | XP_011513238.1 | |||
XM_011514937.2 | 1096 | Intron | XP_011513239.1 | |||
XM_017011348.1 | 1096 | Intron | XP_016866837.1 | |||
XM_017011349.1 | 1096 | Intron | XP_016866838.1 |
JARID2 - jumonji and AT-rich interaction domain containing 2 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
Set Membership: |
HapMap |